Results 131 to 140 of about 9,035 (197)

KCNT1 (Slack/Slo2.2) and KCNT2 (Slick/Slo2.1) Dysregulation in Intellectual Disability and Behavioral Phenotypes: A Systematic Review. [PDF]

Cureus
Murugesan K, Kabir A, Tomalieh BT, Torres J, Kasagga A, Rebellow D.   +5 more
europepmc   +1 more source

Bidirectional ventricular tachycardia in a young woman with prominent U waves: what is the diagnosis? [PDF]

Eur Heart J Case Rep
Saplaouras A, Theocharidis A, Letsas KP.
europepmc   +1 more source

Diagnostic Evolution From Channelopathy to Idiopathic Ventricular Fibrillation After Aborted Sudden Cardiac Death. [PDF]

JACC Case Rep
Butt F, Chokshi P, Badua PM, Kothari J.
europepmc   +1 more source

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects. [PDF]

Epilepsia
Caputo D, Solazzi R, Castellotti B, Panteghini C, Sciacca FL, Visani E, Freri E, Ragona F, Canafoglia L, Zibordi F, Zorzi G, Gandelli S, Gellera C, Franceschetti S, Nardocci N, Granata T.   +15 more
europepmc   +1 more source

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel. [PDF]

Genet Med
Smith L, Bonkowski E, Prentice A, Cohen S, Lusk L, Parthasarathy S, Burns B, Butler E, Chen Y, Dady K, Dugger S, Ing A, Lassiter R, Lewis-Smith D, Mulhern M, Nguyen JNH, Olival J, Sajan SA, Thompson CH, George AL, Wagnon J, Yergert K, Magielski JH, McKee JL, Riggs E, Wiltrout K, Poduri A, Helbig I, Mefford HC.   +28 more
europepmc   +1 more source

Treatment of neonatal seizures: from guidelines to precision therapy. [PDF]

Mol Cell Pediatr
Falsaperla R, Saporito MAN, Scalia B.
europepmc   +1 more source

CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine. [PDF]

BMC Neurol
Long Z, Gong S, Ji D, Guo X, Sui L, Yang X, Yu J.   +6 more
europepmc   +1 more source

Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies. [PDF]

Arrhythm Electrophysiol Rev
Li Tan SM, Lim SL, Ong ME, Leong KM.
europepmc   +1 more source