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Erschienen in: Current Neurology and Neuroscience Reports 4/2020

01.04.2020 | Pediatric Neurology (WE Kaufmann, Section Editor)

EEG Monitoring of the Epileptic Newborn

verfasst von: Francesco Pisani, Carlotta Spagnoli, Carlo Fusco

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 4/2020

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Abstract

Purpose of Review

Although differentiating neonatal-onset epilepsies from acute symptomatic neonatal seizures has been increasingly recognized as crucial, existing guidelines, and recommendations on EEG monitoring are mainly based on acute symptomatic seizures, especially secondary to hypoxic-ischemic encephalopathy. We aimed to narratively review current knowledge on neonatal-onset epilepsies of genetic, metabolic, and structural non-acquired origin, with special emphasis on EEG features and monitoring.

Recent Findings

A wide range of rare conditions are increasingly described, reducing undiagnosed cases. Although distinguishing features are identifiable in some, how to best monitor and detect less described etiologies is still an issue. A comprehensive approach considering onset, seizure evolution, ictal semiology, clinical, laboratory, EEG, and neuroimaging data is key to diagnosis.

Summary

Phenotypic variability prevents precise recommendations, but a solid, consistent method moving from existing published guidelines helps in correctly assessing these newborns in order to provide better care, especially in view of expanding precision therapies.
Literatur
1.
Zurück zum Zitat Pisani F, Cerminara C, Fusco C, Sisti L. Neonatal status epilepticus vs recurrent neonatal seizures: clinical findings and outcome. Neurology. 2007;69:2177–85.PubMed Pisani F, Cerminara C, Fusco C, Sisti L. Neonatal status epilepticus vs recurrent neonatal seizures: clinical findings and outcome. Neurology. 2007;69:2177–85.PubMed
2.
Zurück zum Zitat • Pisani F, et al. Incidence of neonatal seizures, perinatal risk factors for epilepsy and mortality after neonatal seizures in the province of Parma, Italy. Epilepsia. 2018;59:1764–73 Recent population-based study on neonatal seizures incidence and risk factors for mortality and epilepsy.PubMed • Pisani F, et al. Incidence of neonatal seizures, perinatal risk factors for epilepsy and mortality after neonatal seizures in the province of Parma, Italy. Epilepsia. 2018;59:1764–73 Recent population-based study on neonatal seizures incidence and risk factors for mortality and epilepsy.PubMed
3.
Zurück zum Zitat Shellhaas RA. Seizure classification, etiology, and management. Handb Clin Neurol. 2019;162:347–61.PubMed Shellhaas RA. Seizure classification, etiology, and management. Handb Clin Neurol. 2019;162:347–61.PubMed
4.
Zurück zum Zitat Lynch NE, Stevenson NJ, Livingstone V, Mathieson S, Murphy BP, Rennie JM, et al. The temporal characteristics of seizures in neonatal hypoxic ischemic encephalopathy treated with hypothermia. Seizure. 2015;33:60–5.PubMed Lynch NE, Stevenson NJ, Livingstone V, Mathieson S, Murphy BP, Rennie JM, et al. The temporal characteristics of seizures in neonatal hypoxic ischemic encephalopathy treated with hypothermia. Seizure. 2015;33:60–5.PubMed
5.
Zurück zum Zitat Andreolli A, Turco EC, Pedrazzi G, Beghi E, Pisani F. Incidence of epilepsy after neonatal seizures: a population-based study. Neuroepidemiology. 2019;52(3–4):144–51.PubMed Andreolli A, Turco EC, Pedrazzi G, Beghi E, Pisani F. Incidence of epilepsy after neonatal seizures: a population-based study. Neuroepidemiology. 2019;52(3–4):144–51.PubMed
6.
Zurück zum Zitat Shellhaas RA, Chang T, Tsuchida T, Scher MS, Riviello JJ, Abend NS, et al. The American clinical neurophysiology Society's guideline on continuous electroencephalography monitoring in neonates. J Clin Neurophysiol. 2011;28(6):611–7.PubMed Shellhaas RA, Chang T, Tsuchida T, Scher MS, Riviello JJ, Abend NS, et al. The American clinical neurophysiology Society's guideline on continuous electroencephalography monitoring in neonates. J Clin Neurophysiol. 2011;28(6):611–7.PubMed
7.
Zurück zum Zitat Ramantani G, Schmitt B, Plecko B, Pressler RM, Wohlrab G, Klebermass-Schrehof K, et al. Neonatal seizures-are we there yet? Neuropediatrics. 2019;50(5):280–93.PubMed Ramantani G, Schmitt B, Plecko B, Pressler RM, Wohlrab G, Klebermass-Schrehof K, et al. Neonatal seizures-are we there yet? Neuropediatrics. 2019;50(5):280–93.PubMed
8.
Zurück zum Zitat • Cornet MC, Sands TT, Cilio MR. Neonatal epilepsies: clinical management. Semin fetal neonatal med. 2018;23(3):204–12 A review article addressing the clinical features and therapeutic strategies for neonatal-onset epilepsies.PubMed • Cornet MC, Sands TT, Cilio MR. Neonatal epilepsies: clinical management. Semin fetal neonatal med. 2018;23(3):204–12 A review article addressing the clinical features and therapeutic strategies for neonatal-onset epilepsies.PubMed
9.
Zurück zum Zitat Axeen EJT, Olson HE. Neonatal epilepsy genetics. Semin Fetal Neonatal Med. 2018;23(3):197–203.PubMed Axeen EJT, Olson HE. Neonatal epilepsy genetics. Semin Fetal Neonatal Med. 2018;23(3):197–203.PubMed
10.
Zurück zum Zitat Pisani F, Sisti L, Seri S. A scoring system for early prognostic assessment after neonatal seizures. Pediatrics. 2009;124(4):e580–7.PubMed Pisani F, Sisti L, Seri S. A scoring system for early prognostic assessment after neonatal seizures. Pediatrics. 2009;124(4):e580–7.PubMed
11.
Zurück zum Zitat Cornet MC, Cilio MR. Genetics of neonatal-onset epilepsies. Handb Clin Neurol. 2019;162:415–33.PubMed Cornet MC, Cilio MR. Genetics of neonatal-onset epilepsies. Handb Clin Neurol. 2019;162:415–33.PubMed
12.
Zurück zum Zitat Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–21.PubMedPubMedCentral Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–21.PubMedPubMedCentral
13.
Zurück zum Zitat Hellström-Westas L, Boylan G, Ågren J. Systematic review of neonatal seizure management strategies provides guidance on anti-epileptic treatment. Acta Paediatr. 2015;104(2):123–9.PubMed Hellström-Westas L, Boylan G, Ågren J. Systematic review of neonatal seizure management strategies provides guidance on anti-epileptic treatment. Acta Paediatr. 2015;104(2):123–9.PubMed
14.
Zurück zum Zitat McCoy B, Hahn CD. Continuous EEG monitoring in the neonatal intensive care unit. J Clin Neurophysiol. 2013;30(2):106–14.PubMed McCoy B, Hahn CD. Continuous EEG monitoring in the neonatal intensive care unit. J Clin Neurophysiol. 2013;30(2):106–14.PubMed
15.
Zurück zum Zitat de Vries LS, Hellström-Westas L. Role of cerebral function monitoring in the newborn. Arch Dis Child Fetal Neonatal Ed. 2005;90(3):F201–7.PubMedPubMedCentral de Vries LS, Hellström-Westas L. Role of cerebral function monitoring in the newborn. Arch Dis Child Fetal Neonatal Ed. 2005;90(3):F201–7.PubMedPubMedCentral
16.
17.
Zurück zum Zitat Laroia N, Guillet R, Burchfiel J, McBride MC. EEG background as predictor of electrographic seizures in high-risk neonates. Epilepsia. 1998;39(5):545–51.PubMed Laroia N, Guillet R, Burchfiel J, McBride MC. EEG background as predictor of electrographic seizures in high-risk neonates. Epilepsia. 1998;39(5):545–51.PubMed
18.
Zurück zum Zitat Battin M, Bennet L, Gunn AJ. Rebound seizures during rewarming. Pediatrics. 2004;114(5):1369.PubMed Battin M, Bennet L, Gunn AJ. Rebound seizures during rewarming. Pediatrics. 2004;114(5):1369.PubMed
19.
Zurück zum Zitat Glass HC, Wusthoff CJ, Shellhaas RA, Tsuchida TN, Bonifacio SL, Cordeiro M, et al. Risk factors for EEG seizures in neonates treated with hypothermia: a multicenter cohort study. Neurology. 2014;82(14):1239–44.PubMedPubMedCentral Glass HC, Wusthoff CJ, Shellhaas RA, Tsuchida TN, Bonifacio SL, Cordeiro M, et al. Risk factors for EEG seizures in neonates treated with hypothermia: a multicenter cohort study. Neurology. 2014;82(14):1239–44.PubMedPubMedCentral
20.
Zurück zum Zitat Shah DK, Zempel J, Barton T, Lukas K, Inder TE. Electrographic seizures in preterm infants during the first week of life are associated with cerebral injury. Pediatr Res. 2010;67(1):102–6.PubMed Shah DK, Zempel J, Barton T, Lukas K, Inder TE. Electrographic seizures in preterm infants during the first week of life are associated with cerebral injury. Pediatr Res. 2010;67(1):102–6.PubMed
21.
Zurück zum Zitat Gupta SN, Kechli AM, Kanamalla US. Intracranial hemorrhage in term newborns: management and outcomes. Pediatr Neurol. 2009;40(1):1–12.PubMed Gupta SN, Kechli AM, Kanamalla US. Intracranial hemorrhage in term newborns: management and outcomes. Pediatr Neurol. 2009;40(1):1–12.PubMed
22.
Zurück zum Zitat Chequer RS, Tharp BR, Dreimane D, Hahn JS, Clancy RR, Coen RW. Prognostic value of EEG in neonatal meningitis: retrospective study of 29 infants. Pediatr Neurol. 1992;8(6):417–22.PubMed Chequer RS, Tharp BR, Dreimane D, Hahn JS, Clancy RR, Coen RW. Prognostic value of EEG in neonatal meningitis: retrospective study of 29 infants. Pediatr Neurol. 1992;8(6):417–22.PubMed
23.
Zurück zum Zitat Murray DM, Boylan GB, Ali I, Ryan CA, Murphy BP, Connolly S. Defining the gap between electrographic seizure burden, clinical expression and staff recognition of neonatal seizures. Arch Dis Child Fetal Neonatal Ed. 2008;93(3):F187–91.PubMed Murray DM, Boylan GB, Ali I, Ryan CA, Murphy BP, Connolly S. Defining the gap between electrographic seizure burden, clinical expression and staff recognition of neonatal seizures. Arch Dis Child Fetal Neonatal Ed. 2008;93(3):F187–91.PubMed
24.
Zurück zum Zitat Clancy RR, Sharif U, Ichord R, Spray TL, Nicolson S, Tabbutt S, et al. Electrographic neonatal seizures after infant heart surgery. Epilepsia. 2005;46(1):84–90.PubMed Clancy RR, Sharif U, Ichord R, Spray TL, Nicolson S, Tabbutt S, et al. Electrographic neonatal seizures after infant heart surgery. Epilepsia. 2005;46(1):84–90.PubMed
25.
Zurück zum Zitat Pisani F, Barilli AL, Sisti L, Bevilacqua G, Seri S. Preterm infants with video-EEG confirmed seizures: outcome at 30 months of age. Brain and Development. 2008;30(1):20–30.PubMed Pisani F, Barilli AL, Sisti L, Bevilacqua G, Seri S. Preterm infants with video-EEG confirmed seizures: outcome at 30 months of age. Brain and Development. 2008;30(1):20–30.PubMed
26.
Zurück zum Zitat Orivoli S, Facini C, Pisani F. Paroxysmal nonepileptic motor phenomena in newborn. Brain and Development. 2015;37(9):833–9.PubMed Orivoli S, Facini C, Pisani F. Paroxysmal nonepileptic motor phenomena in newborn. Brain and Development. 2015;37(9):833–9.PubMed
27.
Zurück zum Zitat Kotulska K, Jurkiewicz E, Domańska-Pakieła D, Grajkowska W, Mandera M, Borkowska J, et al. Epilepsy in newborns with tuberous sclerosis complex. Eur J Paediatr Neurol. 2014;18(6):714–21.PubMed Kotulska K, Jurkiewicz E, Domańska-Pakieła D, Grajkowska W, Mandera M, Borkowska J, et al. Epilepsy in newborns with tuberous sclerosis complex. Eur J Paediatr Neurol. 2014;18(6):714–21.PubMed
28.
Zurück zum Zitat French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016;388(10056):2153–63.PubMed French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016;388(10056):2153–63.PubMed
29.
Zurück zum Zitat Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010;31:889–900.PubMed Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010;31:889–900.PubMed
30.
Zurück zum Zitat D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere C, et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015;77(4):720–5.PubMedPubMedCentral D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere C, et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015;77(4):720–5.PubMedPubMedCentral
31.
Zurück zum Zitat John S, Jehi L, Manno EM, Conway DS, Uchino K. COL4A1 gene mutation: beyond a vascular syndrome. Seizure. 2015;31:19–21.PubMed John S, Jehi L, Manno EM, Conway DS, Uchino K. COL4A1 gene mutation: beyond a vascular syndrome. Seizure. 2015;31:19–21.PubMed
32.
Zurück zum Zitat Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, et al. Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. Epilepsia. 2016;57(12):2019–30.PubMed Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, et al. Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. Epilepsia. 2016;57(12):2019–30.PubMed
33.
Zurück zum Zitat Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71(1):15–25.PubMed Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71(1):15–25.PubMed
34.
Zurück zum Zitat Numis AL, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology. 2014;82(4):368–70.PubMedPubMedCentral Numis AL, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology. 2014;82(4):368–70.PubMedPubMedCentral
35.
Zurück zum Zitat Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56(5):685–91.PubMed Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56(5):685–91.PubMed
36.
Zurück zum Zitat Olson HE, Kelly M, LaCoursiere C, Pinsky R, Tambunan D, Shain C, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81:419–29.PubMedPubMedCentral Olson HE, Kelly M, LaCoursiere C, Pinsky R, Tambunan D, Shain C, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81:419–29.PubMedPubMedCentral
37.
Zurück zum Zitat Lauritano A, Moutton S, Longobardi E, Tran Mau-Them F, Laudati G, Nappi P, et al. A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. Epilepsia Open. 2019;4(3):464–75.PubMedPubMedCentral Lauritano A, Moutton S, Longobardi E, Tran Mau-Them F, Laudati G, Nappi P, et al. A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. Epilepsia Open. 2019;4(3):464–75.PubMedPubMedCentral
38.
Zurück zum Zitat Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140(5):1316–36.PubMed Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140(5):1316–36.PubMed
39.
Zurück zum Zitat Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44(11):1255–9.PubMedPubMedCentral Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44(11):1255–9.PubMedPubMedCentral
40.
Zurück zum Zitat Štěrbová K, Vlčková M, Klement P, Neupauerová J, Staněk D, Zůnová H, et al. Neonatal onset of epilepsy of infancy with migrating focal seizures associated with a novel GABRB3 variant in monozygotic twins. Neuropediatrics. 2018;49:204–8.PubMed Štěrbová K, Vlčková M, Klement P, Neupauerová J, Staněk D, Zůnová H, et al. Neonatal onset of epilepsy of infancy with migrating focal seizures associated with a novel GABRB3 variant in monozygotic twins. Neuropediatrics. 2018;49:204–8.PubMed
41.
Zurück zum Zitat Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol. 2014;75(4):581–90.PubMedPubMedCentral Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol. 2014;75(4):581–90.PubMedPubMedCentral
42.
Zurück zum Zitat Allen AS, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21.PubMed Allen AS, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21.PubMed
43.
Zurück zum Zitat Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, et al. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. Brain. 2019;142(7):1938–54.PubMed Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, et al. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. Brain. 2019;142(7):1938–54.PubMed
44.
Zurück zum Zitat Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet. 2016;99:287–98. Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet. 2016;99:287–98.
45.
Zurück zum Zitat Bozarth X, Dines JN, Cong Q, Mirzaa GM, Foss K, Lawrence Merritt J 2nd, et al. Expanding clinical phenotype in CACNA1C related disorders: from neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am J Med Genet A. 2018;176(12):2733–9.PubMedPubMedCentral Bozarth X, Dines JN, Cong Q, Mirzaa GM, Foss K, Lawrence Merritt J 2nd, et al. Expanding clinical phenotype in CACNA1C related disorders: from neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am J Med Genet A. 2018;176(12):2733–9.PubMedPubMedCentral
46.
Zurück zum Zitat Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, et al. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A. 2016;170(8):2173–6.PubMed Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, et al. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A. 2016;170(8):2173–6.PubMed
47.
Zurück zum Zitat Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, et al. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology. 2007;69(13):1342–9.PubMed Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, et al. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology. 2007;69(13):1342–9.PubMed
48.
Zurück zum Zitat Guella I, Huh L, McKenzie M, Toyota EB, Bebin EM, Thompson ML, et al. De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. Neurol Genet. 2016;2(6):e120.PubMedPubMedCentral Guella I, Huh L, McKenzie M, Toyota EB, Bebin EM, Thompson ML, et al. De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. Neurol Genet. 2016;2(6):e120.PubMedPubMedCentral
49.
Zurück zum Zitat Olson HE, et al. A recurrent De novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial Dysmorphism, and cerebellar Dysgenesis. Am J Hum Genet. 2018;103(4):631.PubMedPubMedCentral Olson HE, et al. A recurrent De novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial Dysmorphism, and cerebellar Dysgenesis. Am J Hum Genet. 2018;103(4):631.PubMedPubMedCentral
50.
Zurück zum Zitat Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40:782–8.PubMed Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40:782–8.PubMed
51.
Zurück zum Zitat Tohyama J, et al. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 2015;60:167e73. Tohyama J, et al. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 2015;60:167e73.
52.
Zurück zum Zitat Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140(9):2322–36.PubMedPubMedCentral Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140(9):2322–36.PubMedPubMedCentral
53.
Zurück zum Zitat Guerrero-López R, Ortega-Moreno L, Giráldez BG, Alarcón-Morcillo C, Sánchez-Martín G, Nieto-Barrera M, et al. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene. Epilepsy Res. 2014;108(8):1274–8.PubMed Guerrero-López R, Ortega-Moreno L, Giráldez BG, Alarcón-Morcillo C, Sánchez-Martín G, Nieto-Barrera M, et al. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene. Epilepsy Res. 2014;108(8):1274–8.PubMed
54.
Zurück zum Zitat Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015;138(Pt 12):3476–95.PubMed Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015;138(Pt 12):3476–95.PubMed
55.
Zurück zum Zitat Maini I, Iodice A, Spagnoli C, Salerno GG, Bertani G, Frattini D, et al. Expanding phenotype of PRRT2 gene mutations: a new case with epilepsy and benign myoclonus of early infancy. Eur J Paediatr Neurol. 2016;20(3):454–6.PubMed Maini I, Iodice A, Spagnoli C, Salerno GG, Bertani G, Frattini D, et al. Expanding phenotype of PRRT2 gene mutations: a new case with epilepsy and benign myoclonus of early infancy. Eur J Paediatr Neurol. 2016;20(3):454–6.PubMed
56.
Zurück zum Zitat Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, et al. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features. Neurology. 2016;87:77–85.PubMedPubMedCentral Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, et al. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features. Neurology. 2016;87:77–85.PubMedPubMedCentral
57.
Zurück zum Zitat Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015;96:682–90.PubMedPubMedCentral Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015;96:682–90.PubMedPubMedCentral
58.
Zurück zum Zitat Klein KM, Yendle SC, Harvey AS, Antony JH, Wallace G, Bienvenu T, et al. A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence. Neurology. 2011;76(16):1436–8.PubMed Klein KM, Yendle SC, Harvey AS, Antony JH, Wallace G, Bienvenu T, et al. A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence. Neurology. 2011;76(16):1436–8.PubMed
59.
Zurück zum Zitat Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol. 2011;53:354–60.PubMed Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol. 2011;53:354–60.PubMed
60.
Zurück zum Zitat Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49(6):1027–37.PubMed Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49(6):1027–37.PubMed
61.
Zurück zum Zitat Feng H, Sjogren B, Karaj B, Shaw V, Gezer A, Neubig RR. Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. Neurology. 2017;89:762–70.PubMedPubMedCentral Feng H, Sjogren B, Karaj B, Shaw V, Gezer A, Neubig RR. Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. Neurology. 2017;89:762–70.PubMedPubMedCentral
62.
Zurück zum Zitat Horn D, Weschke B, Knierim E, Fischer-Zirnsak B, Stenzel W, Schuelke M, et al. BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. Am J Med Genet A. 2016;170:2274–81.PubMed Horn D, Weschke B, Knierim E, Fischer-Zirnsak B, Stenzel W, Schuelke M, et al. BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. Am J Med Genet A. 2016;170:2274–81.PubMed
63.
Zurück zum Zitat Srivastava S, et al. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016;170(9):2265–73.PubMedPubMedCentral Srivastava S, et al. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016;170(9):2265–73.PubMedPubMedCentral
64.
Zurück zum Zitat Dilena R, DiFrancesco J, Soldovieri MV, Giacobbe A, Ambrosino P, Mosca I, et al. Early treatment with quinidine in 2 patients with epilepsy of infancy with migrating focal seizures (EIMFS) due to gain-of-function KCNT1 mutations: functional studies, clinical responses, and critical issues for personalized therapy. Neurotherapeutics. 2018;15(4):1112–26.PubMedPubMedCentral Dilena R, DiFrancesco J, Soldovieri MV, Giacobbe A, Ambrosino P, Mosca I, et al. Early treatment with quinidine in 2 patients with epilepsy of infancy with migrating focal seizures (EIMFS) due to gain-of-function KCNT1 mutations: functional studies, clinical responses, and critical issues for personalized therapy. Neurotherapeutics. 2018;15(4):1112–26.PubMedPubMedCentral
65.
Zurück zum Zitat Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12:307–9.PubMed Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12:307–9.PubMed
66.
Zurück zum Zitat Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol. 2002;26(2):146–7.PubMed Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol. 2002;26(2):146–7.PubMed
67.
Zurück zum Zitat Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, et al. Confirmation of mutations in PROSC as a novel cause of vitamin B 6-dependent epilepsy. J Med Genet. 2017;54:809–14.PubMed Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, et al. Confirmation of mutations in PROSC as a novel cause of vitamin B 6-dependent epilepsy. J Med Genet. 2017;54:809–14.PubMed
68.
Zurück zum Zitat Guzel Nur B, et al. Pyridoxine-responsive seizures in infantile hypophosphatasia and a novel homozygous mutation in ALPL gene. J Clin Res Pediatr Endocrinol. 2016;8:360e4. Guzel Nur B, et al. Pyridoxine-responsive seizures in infantile hypophosphatasia and a novel homozygous mutation in ALPL gene. J Clin Res Pediatr Endocrinol. 2016;8:360e4.
69.
Zurück zum Zitat Van Hove J, Coughlin C II, Scharer G. Glycine Encephalopathy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Van Hove J, Coughlin C II, Scharer G. Glycine Encephalopathy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.
70.
Zurück zum Zitat Bruun TUJ, DesRoches C, Wilson D, Chau V, Nakagawa T, Yamasaki M, et al. Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. Genet Med. 2018;20(5):486–94.PubMed Bruun TUJ, DesRoches C, Wilson D, Chau V, Nakagawa T, Yamasaki M, et al. Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. Genet Med. 2018;20(5):486–94.PubMed
71.
Zurück zum Zitat Mastrangelo M. Actual insights into treatable inborn errors of metabolism causing epilepsy. J Pediatr Neurosci. 2018;13(1):13–23.PubMedPubMedCentral Mastrangelo M. Actual insights into treatable inborn errors of metabolism causing epilepsy. J Pediatr Neurosci. 2018;13(1):13–23.PubMedPubMedCentral
72.
Zurück zum Zitat Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab. 2016 Jan;117(1):1–4.PubMed Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab. 2016 Jan;117(1):1–4.PubMed
73.
Zurück zum Zitat Schwahn BC, van Spronsen F, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, et al. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type a: a prospective cohort study. Lancet. 2015;386(10007):1955–63.PubMed Schwahn BC, van Spronsen F, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, et al. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type a: a prospective cohort study. Lancet. 2015;386(10007):1955–63.PubMed
74.
Zurück zum Zitat Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, et al. Functional deficiencies of sulfite oxidase: differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain and Development. 2010;32:544–9.PubMed Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, et al. Functional deficiencies of sulfite oxidase: differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain and Development. 2010;32:544–9.PubMed
75.
Zurück zum Zitat Bindu PS, Nagappa M, Bharath RD, Taly AB. Isolated sulfite oxidase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews [internet]. Seattle (WA): University of Washington, Seattle; 2017. p. 1993–2020. Bindu PS, Nagappa M, Bharath RD, Taly AB. Isolated sulfite oxidase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews [internet]. Seattle (WA): University of Washington, Seattle; 2017. p. 1993–2020.
76.
Zurück zum Zitat Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, et al. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis. 2012;35:749–59.PubMed Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, et al. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis. 2012;35:749–59.PubMed
77.
Zurück zum Zitat Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, et al. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013;34:1708–14.PubMed Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, et al. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013;34:1708–14.PubMed
78.
Zurück zum Zitat Kato M, et al. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology. 2014;82:1587e96. Kato M, et al. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology. 2014;82:1587e96.
79.
Zurück zum Zitat Bayat A, Knaus A, Juul AW, Dukic D, Gardella E, Charzewska A, et al. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med. 2019;21(10):2216–23.PubMed Bayat A, Knaus A, Juul AW, Dukic D, Gardella E, Charzewska A, et al. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med. 2019;21(10):2216–23.PubMed
80.
Zurück zum Zitat Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, et al. SLC35A2-related congenital disorder of glycosylation: defining the phenotype. Eur J Paediatr Neurol. 2018;22(6):1095–102.PubMed Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, et al. SLC35A2-related congenital disorder of glycosylation: defining the phenotype. Eur J Paediatr Neurol. 2018;22(6):1095–102.PubMed
81.
Zurück zum Zitat Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, et al. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015;138:3238–50.PubMed Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, et al. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015;138:3238–50.PubMed
82.
Zurück zum Zitat • Nunes ML, et al. Neonatal seizures: is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia open. 2019;4(1):10–29 A recent review paper critically summarizing data on the controversial relationship between ictal semiology and etiology.PubMedPubMedCentral • Nunes ML, et al. Neonatal seizures: is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia open. 2019;4(1):10–29 A recent review paper critically summarizing data on the controversial relationship between ictal semiology and etiology.PubMedPubMedCentral
83.
Zurück zum Zitat Rennie JM, de Vries LS, Blennow M, Foran A, Shah DK, Livingstone V, et al. Characterisation of neonatal seizures and their treatment using continuous EEG monitoring: a multicentre experience. Arch Dis Child Fetal Neonatal Ed. 2019;104(5):F493–501.PubMed Rennie JM, de Vries LS, Blennow M, Foran A, Shah DK, Livingstone V, et al. Characterisation of neonatal seizures and their treatment using continuous EEG monitoring: a multicentre experience. Arch Dis Child Fetal Neonatal Ed. 2019;104(5):F493–501.PubMed
Metadaten
Titel
EEG Monitoring of the Epileptic Newborn
verfasst von
Francesco Pisani
Carlotta Spagnoli
Carlo Fusco
Publikationsdatum
01.04.2020
Verlag
Springer US
Erschienen in
Current Neurology and Neuroscience Reports / Ausgabe 4/2020
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-020-1027-7

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