Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Vlaskamp, Danique R M

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. [electronic resource] - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society May 2016 - 489-92 p. digital

Publication Type: Case Reports; Journal Article

1532-2130

10.1016/j.ejpn.2015.12.014 doi


Adolescent
Epilepsies, Myoclonic--diagnosis
Haploinsufficiency--genetics
Humans
Male
Sequence Deletion--genetics
Syntaxin 1--genetics