A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Nature Genetics

Volumn 47, Issue 1, 2015, Pages 39-46

  Muona, Mikko ^a,b   Berkovic, Samuel F ^c   Dibbens, Leanne M ^d   Oliver, Karen L ^c   Maljevic, Snezana ^e   Bayly, Marta A ^d   Joensuu, Tarja ^a,b   Canafoglia, Laura ^f   Franceschetti, Silvana ^f   Michelucci, Roberto ^g   Markkinen, Salla ^a,b   Heron, Sarah E ^d   Hildebrand, Michael S ^c   Andermann, Eva ^h   Andermann, Frederick ^h   Gambardella, Antonio ⁱ   Tinuper, Paolo ^g,j   Licchetta, Laura ^g,j   Scheffer, Ingrid E ^c   Criscuolo, Chiara ^k   Filla, Alessandro ^k   Ferlazzo, Edoardo ^i,l   Ahmad, Jamil ^m   Ahmad, Adeel ⁿ   Baykan, Betul ^o,p   Said, Edith ^q,r   Topcu, Meral ^s   Riguzzi, Patrizia ^g   King, Mary D ^t,u   Ozkara, Cigdem ^o   Andrade, Danielle M ^v   Engelsen, Bernt A ^w,x   Crespel, Arielle ^y   Lindenau, Matthias ^z   Lohmann, Ebba ^e,z,aa   Saletti, Veronica ^f   Massano, João ^ab,ac   Privitera, Michael ^ad   Espay, Alberto J ^ad   Kauffmann, Birgit ^ae   Duchowny, Michael ^af,ag   Møller, Rikke S ^ah,ai   Straussberg, Rachel ^aj,ak   Afawi, Zaid ^ak,al   Ben Zeev, Bruria ^ak,am   Samocha, Kaitlin E ^an,ao,ap   Daly, Mark J ^an,ao   Petrou, Steven ^c   Lerche, Holger ^e   Palotie, Aarno ^a,an,ao,aq   Lehesjoki, Anna Elina ^a,b   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^h MCGILL UNIVERSITY   (Canada)

ⁱ UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^j UNIVERSITY OF BOLOGNA   (Italy)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^l BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

^m BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

ⁿ MAYO HOSPITAL   (Pakistan)

^o ISTANBUL UNIVERSITY   (Turkey)

^p ISTANBUL UNIVERSITY   (Turkey)

^q UNIVERSITY OF MALTA   (Malta)

^r MATER DEI HOSPITAL   (Malta)

^s HACETTEPE UNIVERSITY   (Turkey)

^t CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^u UNIVERSITY COLLEGE DUBLIN   (Ireland)

^v UNIVERSITY OF TORONTO   (Canada)

^w UNIVERSITY OF BERGEN   (Norway)

^x HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^y GUI DE CHAULIAC HOSPITAL   (France)

^z Epilepsy Center Hamburg   (Germany)

^aa GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^ab Centro Hospitalar Universitário de São João   (Portugal)

^ac University of Porto   (Portugal)

^ad UNIVERSITY OF CINCINNATI   (United States)

^ae Klinikum Links der Weser   (Germany)

^af MIAMI CHILDREN'S HOSPITAL   (United States)

^ag UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^ah DANISH EPILEPSY CENTRE   (Denmark)

^ai UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^aj SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^ak TEL AVIV UNIVERSITY   (Israel)

^al BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^am SHEBA MEDICAL CENTER   (Israel)

^an MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ao BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^ap HARVARD MEDICAL SCHOOL   (United States)

^aq WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; POTASSIUM CHANNEL KV3.1; SHAW POTASSIUM CHANNEL; UNCLASSIFIED DRUG; CARRIER PROTEIN; HEAT SHOCK PROTEIN; KCNC1 PROTEIN, HUMAN; PRION; PRNP PROTEIN, HUMAN; SACS PROTEIN, HUMAN; TBC1D24 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; COGNITIVE DEFECT; COHORT ANALYSIS; EXOME; FEMALE; GENE; GENE MUTATION; HUMAN; KCNC1 GENE; LEARNING DISORDER; LIMITED MOBILITY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYOCLONUS; MYOCLONUS EPILEPSY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; WALKING DIFFICULTY; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; COMPARATIVE STUDY; DOMINANT GENE; GENETICS; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; POINT MUTATION; PRION; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CONSERVED SEQUENCE; EXOME; FEMALE; GENES, DOMINANT; HEAT-SHOCK PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; POINT MUTATION; PRIONS; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SHAW POTASSIUM CHANNELS; SPECIES SPECIFICITY;

EID: 84930946843     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3144     Document Type: Article

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