Erschienen in:
23.08.2019 | Scientific Letter
X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls
verfasst von:
Priyanka Madaan, Sandeep Negi, Rajni Sharma, Anupriya Kaur, Jitendra Kumar Sahu
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 11/2019
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Excerpt
To the Editor: Structural etiology explains the preponderance of West syndrome, especially in developing countries [
1]. With the advent of next-generation sequencing, there has been a paradigm shift in the understanding of genetic variations underlying West syndrome
. Here, we report a girl with West syndrome and a rare pathogenic
ALG13 gene variation. This is the first report of
ALG13-related epileptic encephalopathy from India. …