A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy

Neurobiology of Disease

Volumn 24, Issue 2, 2006, Pages 245-253

  Singh, Baljinder ^a   Ogiwara, Ikuo ^a   Kaneda, Makoto ^b   Tokonami, Natsuko ^a   Mazaki, Emi ^a   Baba, Koichi ^c   Matsuda, Kazumi ^c   Inoue, Yushi ^c   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

Author keywords

A currents; Kv4.2; KCND2; Potassium channel; Temporal lobe epilepsy; Truncation mutation

Indexed keywords

AMINO ACID; VOLTAGE GATED POTASSIUM CHANNEL; POTASSIUM; SHAL POTASSIUM CHANNEL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; KCND2 GENE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PREDICTION; PRIORITY JOURNAL; TEMPORAL LOBE EPILEPSY; ACTION POTENTIAL; BRAIN; BRAIN LEVEL; CASE REPORT; CELL LINE; CELL MEMBRANE POTENTIAL; CHEMISTRY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SYNAPTIC TRANSMISSION;

ACTION POTENTIALS; ADULT; AMINO ACID SUBSTITUTION; BRAIN; BRAIN CHEMISTRY; CELL LINE; DNA MUTATIONAL ANALYSIS; EPILEPSY, TEMPORAL LOBE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MEMBRANE POTENTIALS; MUTATION; PATCH-CLAMP TECHNIQUES; PEDIGREE; POTASSIUM; PROTEIN STRUCTURE, TERTIARY; SHAL POTASSIUM CHANNELS; SYNAPTIC TRANSMISSION;

EID: 33750017572     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2006.07.001     Document Type: Article

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