000			02467nam a2200361 i 4500
001			CR9781009530361
003			UkCbUP
005			20260610102101.0
007			cr||||||||||||
008			240103s2024||||enk o ||1 0|eng|d
020			_a9781009530361 (ebook)
020			_z9781009530330 (hardback)
020			_z9781009530378 (paperback)
040			_aUkCbUP _beng _erda _cUkCbUP
050		4	_aRJ506.D47 _bS36 2024
082	0	4	_a616.85/88 _223
245	0	0	_aSCN2A-related disorders / _cedited by Alfred L. George, Jr.
264		1	_aCambridge : _bCambridge University Press, _c2024.
300			_a1 online resource (81 pages) : _bdigital, PDF file(s).
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
490	1		_aCambridge elements. Elements in genetics in epilepsy, _x2633-2086
500			_aTitle from publisher's bibliographic system (viewed on 15 Nov 2024).
506	0		_aOpen Access. _fUnrestricted online access _2star
520			_aSCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.
650		0	_aDevelopmental disabilities _xGenetic aspects.
700	1		_aGeorge, Alfred L., _eeditor.
776	0	8	_iPrint version: _z9781009530330
830		0	_aElements in genetics in epilepsy, _x2633-2086.
856	4	0	_uhttps://doi.org/10.1017/9781009530361
999			_c10543 _d10543