Results 91 to 100 of about 2,837 (201)
The Journal of Physiology, EarlyView.Abstract figure legend The Kcna1 knockout mouse model of sudden unexpected death in epilepsy (SUDEP) exhibits sex‐specific differences in SUDEP risk. Female mice exhibit a lower SUDEP risk than males, despite similar seizure characteristics and interictal cardiac function across sexes.
Kelsey Paulhus +11 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT SCN1A‐related epilepsy may present in siblings with febrile and afebrile seizures. In resource‐limited settings, diagnosis relies heavily on clinical recognition and established criteria. Early identification and avoidance of sodium channel blockers are critical, while genetic testing, when available, supports diagnosis and family counseling.
Anwar Abu Hetta +5 more
wiley +1 more source
Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy
, 2013 PurposeThe group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form.
Weber, Yvonne G. +6 more
core +1 more source
Clinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci +10 more
wiley +1 more source
Epileptic Disorders, Volume 28, Issue 3, Page 920-924, June 2026.
Roberta Cutellè +8 more
wiley +1 more source
Treatment of Progressive Myoclonic Epilepsy with Mephenesin [PDF]
BMJ, 1955 R E, KELLY, D R, LAURENCE
openaire +2 more sources
Dissection of the genetic background of childhood onset progressive myoclonic epilepsies
, 2012 The progressive myoclonic epilepsies (PMEs) are a clinically and etiologically heterogeneous group of symptomatic epilepsies characterized by myoclonus, tonic-clonic seizures, psychomotor regression and ataxia. Different disorders have been classified as
Kousi, Maria
core
Lafora's disease as a form of myoclonus epilepsy: 3 cases
, 1980 We studied four patients affected by progressive myoclonic epilepsy: three patients had the clinical features of Lafora's disease while the fourth was affected by a Lundborg's type of myoclonic epilepsy.
Armani M. +3 more
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