Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Nakamura, Yuki ^a   Shi, Xiuyu ^a,b   Numata, Tomohiro ^c   Mori, Yasuo ^c   Inoue, Ryuji ^a   Lossin, Christoph ^d   Baram, Tallie Z ^e   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c KYOTO UNIVERSITY   (Japan)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; DEPOLARIZATION; FEBRILE CONVULSION; HCN2 GENE; HIGH TEMPERATURE; HUMAN; HYPERPOLARIZATION; HYPERTHERMIA; JAPAN; KINETICS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVE CELL EXCITABILITY; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SITE DIRECTED MUTAGENESIS; TEMPERATURE DEPENDENCE; TEMPERATURE SENSITIVITY; THERMAL CONDUCTIVITY; WHOLE CELL PATCH CLAMP;

AMINO ACID SEQUENCE; ANIMALS; CASE-CONTROL STUDIES; CHILD; CYCLIC AMP; EXONS; HEK293 CELLS; HUMANS; HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNELS; KINETICS; MEMBRANE POTENTIALS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PATCH-CLAMP TECHNIQUES; PEDIGREE; POTASSIUM CHANNELS; RATS; SEIZURES, FEBRILE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; TEMPERATURE;

EID: 84891858655     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0080376     Document Type: Article

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