Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy

European Journal of Paediatric Neurology

Volumn 20, Issue 3, 2016, Pages 489-492

  Vlaskamp, Danique R M ^a   Rump, Patrick ^a   Callenbach, Petra M C ^a   Vos, Yvonne J ^a   Sikkema Raddatz, Birgit ^a   Van Ravenswaaij Arts, Conny M A ^a   Brouwer, Oebele F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Aetiology; Doose syndrome; Genetics; Myoclonic astatic epilepsy; STX1B

Indexed keywords

CLOBAZAM; LAMOTRIGINE; MITOCHONDRIAL DNA; VALPROIC ACID; STX1B PROTEIN, HUMAN; SYNTAXIN 1;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHROMOSOME 16P; DRUG WITHDRAWAL; GENE; GENE DELETION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; MALE; MISSENSE MUTATION; MONOTHERAPY; MYOCLONIC ASTATIC EPILEPSY; PRIORITY JOURNAL; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; STX1B GENE; SYNAPTIC TRANSMISSION; TONIC CLONIC SEIZURE; YOUNG ADULT; ADOLESCENT; EPILEPSIES, MYOCLONIC; GENETICS;

ADOLESCENT; EPILEPSIES, MYOCLONIC; HAPLOINSUFFICIENCY; HUMANS; MALE; SEQUENCE DELETION; SYNTAXIN 1;

EID: 84955098786     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2015.12.014     Document Type: Article

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