Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Epilepsia

Volumn 54, Issue 7, 2013, Pages 1282-1287

  Kato, Mitsuhiro ^a   Yamagata, Takanori ^b   Kubota, Masaya ^c   Arai, Hiroshi ^d   Yamashita, Sumimasa ^e   Nakagawa, Taku ^f   Fujii, Takanari ^g   Sugai, Kenji ^h   Imai, Kaoru ⁱ   Uster, Tami ^j   Chitayat, David ^j   Weiss, Shelly ^k   Kashii, Hirofumi ^c   Kusano, Ryosuke ^b   Matsumoto, Ayumi ^b   Nakamura, Kazuyuki ^a   Oyazato, Yoshinobu ^f   Maeno, Mari ^f   Nishiyama, Kiyomi ^l   Kodera, Hirofumi ^l   Nakashima, Mitsuko ^l   Tsurusaki, Yoshinori ^l   Miyake, Noriko ^l   Saito, Kayoko ⁱ   Hayasaka, Kiyoshi ^a   Matsumoto, Naomichi ^l   Saitsu, Hirotomo ^l   more..

^a YAMAGATA UNIVERSITY   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d OSAKA UNIVERSITY   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g SHOWA UNIVERSITY   (Japan)

^h NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

ⁱ TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^j UNIVERSITY OF TORONTO   (Canada)

^k HOSPITAL FOR SICK CHILDREN   (Canada)

^l YOKOHAMA CITY UNIVERSITY   (Japan)

more..

Author keywords

Early onset epileptic encephalopathy; Ion channel; KCNQ2; Mosaic; Ohtahara syndrome

Indexed keywords

ALANINE; ARGININE; CARBAMAZEPINE; GLYCINE; PHENYTOIN; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL BLOCKING AGENT; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

ARTICLE; BRAIN ATROPHY; CONTROLLED STUDY; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FRONTAL LOBE; GENE SEQUENCE; GLOBUS PALLIDUS; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HYPSARRHYTHMIA; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OHTAHARA SYNDROME; PALLIATIVE THERAPY; PRIORITY JOURNAL; PROGNOSIS; SEIZURE; TONIC SEIZURE; TREATMENT RESPONSE; WEST SYNDROME;

EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ION CHANNEL; KCNQ2; MOSAIC; OHTAHARA SYNDROME;

DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84879757310     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12200     Document Type: Article

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