000			02444nam a2200373 i 4500
001			CR9781009278270
003			UkCbUP
005			20260610102102.0
007			cr||||||||||||
008			220317s2022||||enk o ||1 0|eng|d
020			_a9781009278270 (ebook)
020			_z9781009278263 (paperback)
040			_aUkCbUP _beng _erda _cUkCbUP
050	0	4	_aRC373 _b.K34 2022
082	0	0	_a616.85/3 _223/eng/20220914
245	0	0	_aKCNQ2- and KCNQ3-associated epilepsy / _cedited by Sarah Weckhuysen, Alfred L. George.
264		1	_aCambridge : _bCambridge University Press, _c2022.
300			_a1 online resource (99 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 10 Nov 2022).
506	0		_aOpen Access. _fUnrestricted online access _2star
505	0		_aPatient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies.
520			_aKCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltage-gated potassium ion (K+) channel responsible for generating an ionic current (M-current) important for controlling activity in the nervous system. Pathogenic variants in both genes are associated with a spectrum of genetic neurological disorders that feature epilepsy of variable severity and can be accompanied by debilitating impaired neurodevelopment. These two genes were among the first discovered causes of monogenic epilepsy, and are frequently identified in persons with early-life epilepsy. This Element provides a comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these prototypical neurological disorders accompanied by perspectives shared by affected families and scientists who have made seminal contributions to the field. This title is also available as Open Access on Cambridge Core.
650		0	_aEpilepsy _xDiagnosis.
700	1		_aWeckhuysen, Sarah, _eeditor.
700	1		_aGeorge, Alfred L., _eeditor.
776	0	8	_iPrint version: _z9781009278263
830		0	_aElements in genetics in epilepsy, _x2633-2086.
856	4	0	_uhttps://doi.org/10.1017/9781009278270
999			_c10598 _d10598