Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Abstract Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous m...

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Main Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genetics
Subjects:
Epilepsy with intellectual disability limited to females
EIEE9
PCDH19
Protocadherin 19
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01119-6

Internet

http://link.springer.com/article/10.1186/s12881-020-01119-6

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