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

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 inheritanc...

Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells 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 Pl Tags: Case report Source Type: research