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

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 males are...

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Detalles Bibliográficos
Autores principales: Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Fedonyuk, Inessa Dmitrievna, Kholin, Alexey Aleksandrovich, Il’ina, Elena Stepanovna, Krasnenko, Anna Yurievna, Stetsenko, Ivan Fedorovich, Plotnikov, Nikolay Alekseevich, Klimchuk, Olesia Igorevna, Surkova, Ekaterina Ivanovna, Ilinsky, Valery Vladimirovich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579871/
https://www.ncbi.nlm.nih.gov/pubmed/33087045
http://dx.doi.org/10.1186/s12881-020-01119-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579871/
https://www.ncbi.nlm.nih.gov/pubmed/33087045
http://dx.doi.org/10.1186/s12881-020-01119-6

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