Mutations in KCNT1 cause a spectrum of focal epilepsies

Epilepsia

Volumn 56, Issue 9, 2015, Pages e114-e120

  Møller, Rikke S ^a,b   Heron, Sarah E ^c   Larsen, Line H G ^d   Lim, Chiao Xin ^c   Ricos, Michael G ^c   Bayly, Marta A ^c   Van Kempen, Marjan J A ^e   Klinkenberg, Sylvia ^f   Andrews, Ian ^g,h   Kelley, Kent ⁱ   Ronen, Gabriel M ^j   Callen, David ^j   McMahon, Jacinta M ^k   Yendle, Simone C ^k   Carvill, Gemma L ^l   Mefford, Heather C ^l   Nabbout, Rima ^m   Poduri, Annapurna ⁿ   Striano, Pasquale ^o   Baglietto, Maria G ^o   Zara, Federico ^p   Smith, Nicholas J ^q,r   Pridmore, Clair ^q   Gardella, Elena ^a,b   Nikanorova, Marina ^a   Dahl, Hans Atli ^d   Gellert, Pia ^a   Scheffer, Ingrid E ^k   Gunning, Boudewijn ^s   Kragh Olsen, Bente ^t   Dibbens, Leanne M ^c   more..

^a DANISH EPILEPSY CENTRE   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^d Amplexa Genetics A/S   (Denmark)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^g SYDNEY CHILDREN'S HOSPITAL   (Australia)

^h UNIVERSITY OF NEW SOUTH WALES   (Australia)

ⁱ NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^j MCMASTER UNIVERSITY   (Canada)

^k UNIVERSITY OF MELBOURNE   (Australia)

^l UNIVERSITY OF WASHINGTON   (United States)

^m HÔPITAL NECKER ENFANTS MALADES   (France)

ⁿ BOSTON CHILDREN S HOSPITAL   (United States)

^o UNIVERSITY OF GENOA   (Italy)

^p G GASLINI INSTITUTE   (Italy)

^q Women's and Children's Health Network   (Australia)

^r UNIVERSITY OF ADELAIDE   (Australia)

^s STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

^t AARHUS UNIVERSITY HOSPITAL   (Denmark)

more..

Author keywords

Autosomal dominant nocturnal frontal lobe epilepsy; Cardiac arrhythmia; Epileptic encephalopathy; KCNT1; Sudden unexpected death in epilepsy

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNT1; UNCLASSIFIED DRUG; KCNT1 PROTEIN, HUMAN; NERVE PROTEIN;

ADOLESCENT; AMNESIA; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; BRUGADA SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEPRESSION; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MISSENSE MUTATION; NOCTURNAL SEIZURE; OHTAHARA SYNDROME; ONSET AGE; PENETRANCE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; REM SLEEP; SUDDEN DEATH; SUICIDE ATTEMPT; FEMALE; GENETICS; INFANT; MALE; MUTATION; PRESCHOOL CHILD; SUDDEN INFANT DEATH SYNDROME;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; EPILEPSIES, PARTIAL; FEMALE; HUMANS; INFANT; MALE; MUTATION; NERVE TISSUE PROTEINS; POTASSIUM CHANNELS; SUDDEN INFANT DEATH;

EID: 84940963068     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13071     Document Type: Article

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