000 01386 a2200349 4500
005 20250517075202.0
264 0 _c20161213
008 201612s 0 0 eng d
022 _a1532-2130
024 7 _a10.1016/j.ejpn.2015.12.014
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aVlaskamp, Danique R M
245 0 0 _aHaploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.
_h[electronic resource]
260 _bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
_cMay 2016
300 _a489-92 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdolescent
650 0 4 _aEpilepsies, Myoclonic
_xdiagnosis
650 0 4 _aHaploinsufficiency
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aSequence Deletion
_xgenetics
650 0 4 _aSyntaxin 1
_xgenetics
700 1 _aRump, Patrick
700 1 _aCallenbach, Petra M C
700 1 _aVos, Yvonne J
700 1 _aSikkema-Raddatz, Birgit
700 1 _avan Ravenswaaij-Arts, Conny M A
700 1 _aBrouwer, Oebele F
773 0 _tEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
_gvol. 20
_gno. 3
_gp. 489-92
856 4 0 _uhttps://doi.org/10.1016/j.ejpn.2015.12.014
_zAvailable from publisher's website
999 _c25676521
_d25676521