De novo GABRA1 mutations in Ohtahara and West syndromes

Epilepsia

Volumn 57, Issue 4, 2016, Pages 566-573

  Kodera, Hirofumi ^a   Ohba, Chihiro ^a   Kato, Mitsuhiro ^b,c   Maeda, Toshiyuki ^d   Araki, Kaoru ^d   Tajima, Daisuke ^d   Matsuo, Muneaki ^d   Hino Fukuyo, Naomi ^e   Kohashi, Kosuke ^f   Ishiyama, Akihiko ^f   Takeshita, Saoko ^g   Motoi, Hirotaka ^g   Kitamura, Taro ^h   Kikuchi, Atsuo ^e   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Miyake, Noriko ^a   Sasaki, Masayuki ^f   Kure, Shigeo ^e   Haginoya, Kazuhiro ^e,i   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c SHOWA UNIVERSITY   (Japan)

^d SAGA UNIVERSITY   (Japan)

^e TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^g YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^h SENDAI CITY HOSPITAL   (Japan)

ⁱ Takuto Rehabilitation Center for Children   (Japan)

Author keywords

De novo mutation; Early onset epileptic encephalopathy; GABAA receptor; GABRA1; Infantile epilepsy

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR; GABRA1 PROTEIN, HUMAN;

ARTICLE; CHILD; EXOME; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INFANTILE SPASM; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OHTAHARA SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; AMINO ACID SEQUENCE; ELECTROENCEPHALOGRAPHY; GENETICS; INFANT; MOLECULAR GENETICS; PATHOPHYSIOLOGY; SPASMS, INFANTILE;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTORS, GABA-A; SPASMS, INFANTILE;

EID: 84960968522     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13344     Document Type: Article

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