Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay - Saitsu, Hirotomo; Tohyama, Jun; Kumada, Tatsuro; Egawa, Kiyoshi; Hamada, Keisuke; Okada, Ippei; Mizuguchi, Takeshi; Osaka, Hitoshi; Miyata, Rie; Furukawa, Tomonori; Haginoya, Kazuhiro; Hoshino, Hideki; et al. (American journal of human genetics, 2010)
Keywords: Amino Acid Sequence; Animals; Biological and medical sciences; Brain - metabolism; Cells, Cultured; Developmental Disabilities - genetics; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Infant; Medical genetics; Medical sciences; Mice; Molecular and cellular biology; Molecular Sequence Data; Myelin Sheath - metabolism; Nervous system (semeiology, syndromes); Neurology; Phenotype; Quadriplegia - genetics; Spasms, Infantile - genetics; Spectrin - genetics; Transfection; Human; Spectrin; Tetraplegia; Nervous system diseases; Motor system disorder; Epilepsy; Developmental disorder; Cerebral disorder; Encephalon; West syndrome; Central nervous system disease; Genetics; Dominant character; Mutation; Neurological disorder; Severe