A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

Proceedings of the National Academy of Sciences of the United States of America

Volumn 98, Issue 11, 2001, Pages 6384-6389

  Sugawara, Takashi ^a   Tsurubuchi, Yuji ^a   Agarwala, Kishan Lal ^a   Ito, Masatoshi ^b   Fukuma, Goryu ^c   Mazaki Miyazaki, Emi ^a   Nagafuji, Hiroshi ^d   Noda, Masaharu ^e   Imoto, Keiji ^f   Wada, Kazumaru ^g   Mitsudome, Akihisa ^c   Kaneko, Sunao ^g   Montal, Mauricio ^h   Nagata, Keiichi ^a   Hirose, Shinichi ^c   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^c FUKUOKA UNIVERSITY   (Japan)

^d Kitano Hospital   (Japan)

^e NATIONAL INSTITUTE FOR BASIC BIOLOGY   (Japan)

^f NATIONAL INSTITUTE FOR PHYSIOLOGICAL SCIENCES   (Japan)

^g HIROSAKI UNIVERSITY   (Japan)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Channelopathy; Epilepsy; Febrile seizures

Indexed keywords

GENE PRODUCT; PROTEIN NAV1.2; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHANNEL GATING; CLINICAL ARTICLE; CONDUCTANCE; CONTROLLED STUDY; EPILEPSY; FEBRILE CONVULSION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PEDIGREE; PRIORITY JOURNAL; SODIUM TRANSPORT;

AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CELL LINE; CHILD; DNA, COMPLEMENTARY; ELECTROPHYSIOLOGY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; RATS; SEIZURES; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 14344277590     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.111065098     Document Type: Article

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