De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Saitsu, Hirotomo ^a   Akita, Tenpei ^b   Tohyama, Jun ^c   Goldberg Stern, Hadassa ^d   Kobayashi, Yu ^c   Cohen, Roni ^d   Kato, Mitsuhiro ^e   Ohba, Chihiro ^a   Miyatake, Satoko ^a   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Miyake, Noriko ^a   Fukuda, Atsuo ^b   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^d Pediatric Hematology Oncology   (Israel)

^e YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

KCNB1 PROTEIN, HUMAN; POTASSIUM; SHAB POTASSIUM CHANNEL;

CELL LINE; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; FEMALE; GENE EXPRESSION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MEMBRANE POTENTIAL; METABOLISM; MUTATION; NERVE CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; TREATMENT OUTCOME;

CELL LINE; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; FEMALE; GENE EXPRESSION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE POTENTIALS; MUTATION; NEURONS; PHENOTYPE; POTASSIUM; SHAB POTASSIUM CHANNELS; TREATMENT OUTCOME;

EID: 84945242384     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep15199     Document Type: Article

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