000			02158 a2200685 4500
005			20250514193625.0
264		0	_c20041221
008			200412s 0 0 eng d
022			_a1526-632X
024	7		_a10.1212/01.wnl.0000132979.08394.6d _2doi
040			_aNLM _beng _cNLM
100	1		_aBorgatti, R
245	0	0	_aA novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. _h[electronic resource]
260			_bNeurology _cJul 2004
300			_a57-65 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aAmino Acid Substitution
650	0	4	_aAnimals
650	0	4	_aAnticonvulsants _xpharmacology
650	0	4	_aCHO Cells
650	0	4	_aCricetinae
650	0	4	_aCricetulus
650	0	4	_aDrug Resistance _xgenetics
650	0	4	_aEpilepsies, Partial _xdrug therapy
650	0	4	_aEpilepsy, Benign Neonatal _xdrug therapy
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aIon Channel Gating
650	0	4	_aIon Transport
650	0	4	_aKCNQ2 Potassium Channel
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPoint Mutation
650	0	4	_aPotassium Channels, Voltage-Gated _xchemistry
650	0	4	_aProtein Conformation
650	0	4	_aProtein Subunits
650	0	4	_aQuadriplegia _xgenetics
650	0	4	_aStructure-Activity Relationship
700	1		_aZucca, C
700	1		_aCavallini, A
700	1		_aFerrario, M
700	1		_aPanzeri, C
700	1		_aCastaldo, P
700	1		_aSoldovieri, M V
700	1		_aBaschirotto, C
700	1		_aBresolin, N
700	1		_aDalla Bernardina, B
700	1		_aTaglialatela, M
700	1		_aBassi, M T
773	0		_tNeurology _gvol. 63 _gno. 1 _gp. 57-65
856	4	0	_uhttps://doi.org/10.1212/01.wnl.0000132979.08394.6d _zAvailable from publisher's website
999			_c14952661 _d14952661