De Novo Mutations in SLC35A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1708-1714

  Kodera, Hirofumi ^a   Nakamura, Kazuyuki ^a,b   Osaka, Hitoshi ^c   Maegaki, Yoshihiro ^d   Haginoya, Kazuhiro ^e,f   Mizumoto, Shuji ^g   Kato, Mitsuhiro ^b   Okamoto, Nobuhiko ^h   Iai, Mizue ^c   Kondo, Yukiko ^a   Nishiyama, Kiyomi ^a   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Miyake, Noriko ^a   Hayasaka, Kiyoshi ^b   Sugahara, Kazuyuki ^g   Yuasa, Isao ^d   Wada, Yoshinao ^h   Matsumoto, Naomichi ^a   Saitsu, Hirotomo ^a  

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

^b YAMAGATA UNIVERSITY   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d TOTTORI UNIVERSITY   (Japan)

^e TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f Takuto Rehabilitation Center for Children   (Japan)

^g HOKKAIDO UNIVERSITY   (Japan)

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

Author keywords

Congenital disorders of glycosylation; Early onset epileptic encephalopathy; SLC35A2

Indexed keywords

CARRIER PROTEIN; CLOBAZAM; CORTICOTROPIN; ETIRACETAM; MESSENGER RNA; NITRAZEPAM; PHENOBARBITAL; PYRIDOXINE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE GALACTOSE TRANSPORTER; VALPROIC ACID; ZONISAMIDE;

ANIMAL CELL; ANTICONVULSANT THERAPY; ARTICLE; BRAIN NERVE CELL; CASE REPORT; CHILD; DNA DETERMINATION; DRUG TREATMENT FAILURE; ELECTROENCEPHALOGRAM; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HYPSARRHYTHMIA; IMMUNOFLUORESCENCE MICROSCOPY; IN VITRO STUDY; KETOGENIC DIET; LOW DRUG DOSE; LYMPHOBLASTOID CELL; MISSENSE MUTATION; MOUSE; NEUROBLASTOMA; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; TONIC SEIZURE; TRANSIENT EXPRESSION; WEST SYNDROME; WILD TYPE;

CONGENITAL DISORDERS OF GLYCOSYLATION; EARLY-ONSET EPILEPTIC ENCEPHALOPATHY; SLC35A2;

AGE OF ONSET; ANIMALS; BRAIN; CELL LINE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EXOME; FACIES; FEMALE; GENE EXPRESSION; GENE ORDER; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MICE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; PROTEIN TRANSPORT; RNA ISOFORMS; SPASMS, INFANTILE;

EID: 84887612319     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22446     Document Type: Article

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