Novel Mutation in KCNQ2 Causing Ohtahara Syndrome
نویسندگان
چکیده
منابع مشابه
Familial Ohtahara syndrome due to a novel ARX gene mutation.
Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that ...
متن کاملOhtahara syndrome
By Jules C Beal MD (Dr. Beal of Albert Einstein College of Medicine has no relevant financial relationships to disclose.) Koshi A Cherian MD (Dr. Cherian of Albert Einstein College of Medicine has no relevant financial relationships to disclose.) Solomon L Moshe MD (Dr. Moshe of Albert Einstein College of Medicine received honorariums from UCB as a member of a data and safety monitoring board.)...
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ژورنال
عنوان ژورنال: Annals of Child Neurology
سال: 2019
ISSN: 2635-909X,2635-9103
DOI: 10.26815/acn.2019.00178