A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

Brain and Development

Volumn 39, Issue 3, 2017, Pages 256-260

  Kimizu, Tomokazu ^a   Takahashi, Yukitoshi ^a   Oboshi, Taikan ^a   Horino, Asako ^a   Koike, Takayoshi ^a   Yoshitomi, Shinsaku ^a   Mori, Tatsuo ^a,b   Yamaguchi, Tokito ^a   Ikeda, Hiroko ^a   Okamoto, Nobuhiko ^c   Nakashima, Mitsuko ^d   Saitsu, Hirotomo ^d   Kato, Mitsuhiro ^e   Matsumoto, Naomichi ^d   Imai, Katsumi ^a  

^a SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

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

^e SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ACTH therapy; CDG; Early onset epileptic encephalopathy; Skewed X inactivation; SLC35A2

Indexed keywords

APOLIPOPROTEIN C3; BIOLOGICAL MARKER; CORTICOTROPIN; GLYCOPROTEIN; PYRIDOXINE; SLC35A2 PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG; VALPROIC ACID; ZONISAMIDE; GLUCOSE TRANSPORTER; UDP-GALACTOSE TRANSLOCATOR;

ARTICLE; BIRTH WEIGHT; BODY DYSMORPHIC DISORDER; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL FEATURE; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DIVERGENT STRABISMUS; DRUG DOSE REDUCTION; ELECTROENCEPHALOGRAPHY; EXON; FEMALE; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GESTATIONAL AGE; HORMONAL THERAPY; HUMAN; HYPSARRHYTHMIA; INFANT; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; JAPANESE (PEOPLE); LENNOX GASTAUT SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN BLOOD LEVEL; PROTEIN GLYCOSYLATION; THETA RHYTHM; TREATMENT DURATION; WHOLE EXOME SEQUENCING; BRAIN DISEASES; COMPLICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; EPILEPSY; GENETICS; MUTATION; ONSET AGE; PROCEDURES; SPASMS, INFANTILE;

AGE OF ONSET; BRAIN DISEASES; CONGENITAL DISORDERS OF GLYCOSYLATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; SPASMS, INFANTILE;

EID: 85002250210     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2016.09.009     Document Type: Article

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