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01.11.2013 | Original Article

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

verfasst von: Stéphanie Valence, Karine Poirier, Nicolas Lebrun, Yoann Saillour, Pascale Sonigo, Bettina Bessières, Tania Attié-Bitach, Alexandra Benachi, Cécile Masson, Ferechté Encha-Razavi, Jamel Chelly, Nadia Bahi-Buisson

Erschienen in: Neurogenetics | Ausgabe 3-4/2013

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Abstract

Polymicrogyria (PMG) is a clinically heterogeneous malformation of cortical development, characterized by a loss of the normal gyral pattern that is replaced by many small and infolded gyri separated by shallow sulci that are partly fused in their depths. Causes of PMG are heterogeneous and include acquired and genetic causes. There are more than 100 syndromes possibly associated with PMG but mutations in specific genes such as SRPX2, GPR56, TUBB2B, TUBB3, NHEJ1, TUBA1A, TUBA8, and WDR62 have been reported only in a minority of patients.

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Titel: Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria
verfasst von: Stéphanie Valence
Karine Poirier
Nicolas Lebrun
Yoann Saillour
Pascale Sonigo
Bettina Bessières
Tania Attié-Bitach
Alexandra Benachi
Cécile Masson
Ferechté Encha-Razavi
Jamel Chelly
Nadia Bahi-Buisson
Publikationsdatum: 01.11.2013
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 3-4/2013
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-013-0373-x

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