Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene ( NR2F1 ) mutation
Autor: | Naomi Hino-Fukuyo, Shigeo Kure, Yoko Aoki, Kazuhiro Haginoya, Tetsuya Niihori, Hiroyuki Yokoyama, Atsuo Kikuchi, Kazuie Iinuma, Keiko Nakayama, Mieko Hirose |
---|---|
Rok vydání: | 2017 |
Předmět: |
Adult
0301 basic medicine Pediatrics medicine.medical_specialty Subfamily Mutation Missense 030105 genetics & heredity Biology BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME 03 medical and health sciences Seizures medicine Humans Gene Exome sequencing Genetics COUP Transcription Factor I Infant West Syndrome General Medicine Neurology Nuclear receptor Mutation (genetic algorithm) Female Neurology (clinical) Spasms Infantile |
Zdroj: | Seizure. 50:144-146 |
ISSN: | 1059-1311 |
Popis: | Long-term outcome of West syndrome with a NR2F1 mutation. |
Databáze: | OpenAIRE |
Externí odkaz: |