Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

Brain and Development

Volumn 35, Issue 3, 2013, Pages 280-283

  Nonoda, Yutaka ^a   Saito, Yoshiaki ^b   Nagai, Shigehiro ^b   Sasaki, Masayuki ^b   Iwasaki, Toshiyuki ^a   Matsumoto, Naomichi ^c   Ishii, Masahiro ^a   Saitsu, Hirotomo ^c  

^a KITASATO UNIVERSITY HOSPITAL   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Brainstem atrophy; Hypomyelination; Infantile spasm; West syndrome

Indexed keywords

CLOBAZAM; CORTICOTROPIN; PHENOBARBITAL; POTASSIUM BROMIDE; PYRIDOXINE; VALPROIC ACID; ZONISAMIDE;

APGAR SCORE; ARTICLE; BODY HEIGHT; BRAIN ATROPHY; CASE REPORT; CHILD; DEMYELINATION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; EVOKED AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; FAILURE TO THRIVE; GENE; GENE MUTATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPSARRHYTHMIA; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; SOMNOLENCE; SPTAN1 GENE; TONIC SEIZURE; WAKEFULNESS; WEST SYNDROME; WHITE MATTER;

ADRENOCORTICOTROPIC HORMONE; APGAR SCORE; ATROPHY; BRAIN; CARRIER PROTEINS; CEREBELLUM; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; EVOKED POTENTIALS, VISUAL; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROFILAMENT PROTEINS; NEUROIMAGING; SEIZURES; SPASMS, INFANTILE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84873747744     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.05.002     Document Type: Article

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