000 | 01386 a2200349 4500 | ||
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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 |