Results 81 to 90 of about 8,275 (187)

Sex‐specific differences in mortality and neurocardiac interactions in the Kv1.1 knockout mouse model of sudden unexpected death in epilepsy (SUDEP)

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, Praveen Kumar, Kelly Kneale, T. Noah Hutson, Nicole M. Gautier‐Hall, Deng‐Shan Shiau, Megan Watts, Krystle Trosclair, Hemangini A. Dhaibar, Paari Dominic, Leonidas Iasemidis, Edward Glasscock   +11 more
wiley   +1 more source

Familial SCN1A‐Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource‐Limited Settings: A Case Report

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, Raghad S. Razem, Shams Shahateet, Bushra Kh. Pujee, Amal M. Shawabka, Bara M. AbuIrayyeh   +5 more
wiley   +1 more source

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, Volume 11, Issue 3, Page 871-882, June 2026.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum. [PDF]

Ital J Pediatr, 2023
Najafi A, Tasharrofi B, Zandsalimi F, Rasulinezhad M, Ghahvechi Akbari M, Zamani G, Ashrafi MR, Heidari M.   +7 more
europepmc   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

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, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal ¹H MRS brain metabolic profiles associated with cognitive function. [PDF]

Neuroimage Clin, 2023
Hyppönen J, Paanila V, Äikiä M, Koskenkorva P, Könönen M, Vanninen R, Mervaala E, Kälviäinen R, Hakumäki J.   +8 more
europepmc   +1 more source

Late-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases

, 2016
Late-onset myoclonic epilepsy is being increasingly recognized as a late complication inelderly patients with Down syndrome (DS) in association with cognitive decline.
Tuncer, Ozlem Gungor, Ebru Nur Vanli-yavuz, Usluer Sunay, Caglayan, Hande, Baykan, Betul, Gundogdu, Asli, Altindag, Ebru, Usluer, Sunay, Caglayan Hande, Tuncer Ozlem Gungor, Vanli-Yavuz, Ebru Nur, Altindag Ebru, Baykan Betul, Gundogdu Asli   +13 more
core  

A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review. [PDF]

Front Genet, 2023
Chen Y, Yang X, Yan X, Shen L, Guo J, Xu Q.   +5 more
europepmc   +1 more source

Familial Kufs' Disease Presenting as a Progressive Myoclonic Epilepsy

, 2000
peer reviewedKufs' disease is the adult form of a group of disorders referred to as neuronal ceroid-lipofuscinosis or Batten's disease. We report here the clinical and anatomopathological features of two young brothers presenting with a progressive ...
Franck, Georges, Arrese Estrada, Jorge, Sadzot, Bernard, Reznik, Michel   +3 more
core   +1 more source

Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy. [PDF]

Ann Clin Transl Neurol, 2021
Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A.   +7 more
europepmc   +1 more source