000 01562 a2200481 4500
005 20250516030047.0
264 0 _c20110802
008 201108s 0 0 eng d
022 _a1872-7972
024 7 _a10.1016/j.neulet.2011.03.008
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aYordanova, Iglika
245 0 0 _aOne novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
_h[electronic resource]
260 _bNeuroscience letters
_cApr 2011
300 _a180-3 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAge of Onset
650 0 4 _aAnticonvulsants
_xtherapeutic use
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aElectroencephalography
650 0 4 _aEpilepsies, Myoclonic
_xdrug therapy
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMutation, Missense
650 0 4 _aNAV1.1 Voltage-Gated Sodium Channel
650 0 4 _aNerve Tissue Proteins
_xgenetics
650 0 4 _aPhenotype
650 0 4 _aSodium Channels
_xgenetics
700 1 _aTodorov, Tihomir
700 1 _aDimova, Petia
700 1 _aHristova, Dimitrina
700 1 _aTincheva, Radka
700 1 _aLitvinenko, Ivan
700 1 _aYotovska, Olga
700 1 _aKremensky, Ivo
700 1 _aTodorova, Albena
773 0 _tNeuroscience letters
_gvol. 494
_gno. 2
_gp. 180-3
856 4 0 _uhttps://doi.org/10.1016/j.neulet.2011.03.008
_zAvailable from publisher's website
999 _c20668450
_d20668450