Search

2 result(s) for 'author#Elena Grigorievna Okuneva' within BMC

1. 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...

   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 and Valery Vladimirovich Ilinsky

   Citation: BMC Medical Genetics 2020 21:209

   Content type: Case report Published on: 21 October 2020

   • View Full Text
   • View PDF

2. A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

   Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, v...

   Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov and Valery Vladimirovich Ilinsky

   Citation: BMC Medical Genetics 2018 19:151

   Content type: Case report Published on: 25 August 2018

   • View Full Text
   • View PDF