GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

Epilepsia

Volumn 56, Issue 6, 2015, Pages 841-848

  Ohba, Chihiro ^a,b   Shiina, Masaaki ^a   Tohyama, Jun ^c   Haginoya, Kazuhiro ^d   Lerman Sagie, Tally ^e   Okamoto, Nobuhiko ^f   Blumkin, Lubov ^e   Lev, Dorit ^e   Mukaida, Souichi ^g   Nozaki, Fumihito ^h   Uematsu, Mitsugu ⁱ   Onuma, Akira ^j   Kodera, Hirofumi ^a   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Tanaka, Fumiaki ^b   Kato, Mitsuhiro ^k   Ogata, Kazuhiro ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^d Takuto Rehabilitation Center for Children   (Japan)

^e WOLFSON MEDICAL CENTER   (Israel)

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

^g UTANO NATIONAL HOSPITAL   (Japan)

^h Shiga Medical Center for Children   (Japan)

ⁱ TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j Ekoh Ryoikuen   (Japan)

^k YAMAGATA UNIVERSITY   (Japan)

more..

Author keywords

Encephalopathy; GRIN1; Movement disorders; Neurotransmitter disorders; Seizure

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR; PHENOBARBITAL; ZONISAMIDE; GRIN1 PROTEIN, HUMAN; NERVE PROTEIN;

ADOLESCENT; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EXOME; EYE MOVEMENT DISORDER; FEMALE; GENE; GENE FREQUENCY; GRIN1 GENE; HAND MOVEMENT; HUMAN; HYPERKINESIA; HYPSARRHYTHMIA; IMMOBILITY; INTELLECTUAL IMPAIRMENT; INVOLUNTARY MOVEMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; MOSAICISM; MOTOR DYSFUNCTION; ONSET AGE; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; SLEEP DISORDER; COMPLICATION; ELECTROENCEPHALOGRAPHY; GENETIC PREDISPOSITION; GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ADOLESCENT; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERKINESIS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; RECEPTORS, N-METHYL-D-ASPARTATE; STEREOTYPIC MOVEMENT DISORDER;

EID: 84930480453     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12987     Document Type: Article

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