De novo KCNT1 mutations in early-onset epileptic encephalopathy

Epilepsia

Volumn 56, Issue 9, 2015, Pages e121-e128

  Ohba, Chihiro ^a,e   Kato, Mitsuhiro ^c   Takahashi, Nobuya ^c   Osaka, Hitoshi ^d,e   Shiihara, Takashi ^f   Tohyama, Jun ^g   Nabatame, Shin ^h   Azuma, Junji ^h   Fujii, Yuji ⁱ   Hara, Munetsugu ^j   Tsurusawa, Reimi ^l   Inoue, Takahito ^l   Ogata, Reina ^m   Watanabe, Yoriko ^k   Togashi, Noriko ^n,o   Kodera, Hirofumi ^a   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Tanaka, Fumiaki ^b   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e JICHI MEDICAL UNIVERSITY   (Japan)

^f Gumna Children S Medical Center   (Japan)

^g NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^h OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁱ HIROSHIMA UNIVERSITY HOSPITAL   (Japan)

^j ST MARY S HOSPITAL   (Japan)

^k KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^l Fukuoka University Chikushi Hospital   (Japan)

^m FUKUOKA CHILDREN S HOSPITAL   (Japan)

ⁿ MIYAGI CHILDREN S HOSPITAL   (Japan)

^o SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

De novo mutation; Early onset epileptic encephalopathies; Epilepsy of infancy with migrating focal seizures; KCNT1

Indexed keywords

CARBAMAZEPINE; ETIRACETAM; KCNT1 PROTEIN; PHENOBARBITAL; POTASSIUM BROMIDE; POTASSIUM ION; PROTEIN; PYRIDOXINE; TOPIRAMATE; UNCLASSIFIED DRUG; ZONISAMIDE; KCNT1 PROTEIN, HUMAN; NERVE PROTEIN; POTASSIUM CHANNEL;

ANTICONVULSANT THERAPY; ARTICLE; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DRUG MEGADOSE; DRUG TREATMENT FAILURE; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURE; EXOME; FEMALE; FOCAL EPILEPSY; GENE; GENE MUTATION; GENE TARGETING; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HYPSARRHYTHMIA; IMMOBILITY; INFANTILE SPASM; INTRACTABLE EPILEPSY; KETOGENIC DIET; MALE; MOTHER; NEUROIMAGING; NEWBORN PERIOD; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; ONSET AGE; POLYMERASE CHAIN REACTION; POTASSIUM CONDUCTANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN TARGETING; SOMATIC MUTATION; SPTAN1 GENE; STXBP1 GENE; BRAIN; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; MUTATION; PATHOLOGY;

BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; NERVE TISSUE PROTEINS; POTASSIUM CHANNELS; SPASMS, INFANTILE;

EID: 84940953478     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13072     Document Type: Article

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