Results 71 to 80 of about 8,171 (145)

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Annals of Clinical and Translational Neurology, 2019
A recurrent de novo missense variant in KCNC1, encoding a voltage‐gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability.
Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack   +20 more
doaj   +1 more source

Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel

Epilepsy and Behavior Case Reports, 2014
Lafora disease is a rare and fatal disease characterized by seizures, progressive cognitive and behavioral deterioration, as well as cerebellar dysfunction.
Maya Dirani, Wassim Nasreddine, Fatima Abdulla, Ahmad Beydoun   +3 more
doaj   +1 more source

Frequency of anti‐neural antibodies and autoimmune epilepsy in focal epilepsy of unknown etiology: An observational study in a Singaporean cohort

Epilepsia Open, EarlyView.
Abstract Objective Autoimmune epilepsy (AES) is increasingly recognized as a condition in patients with epilepsy of unknown etiology. Early immunotherapy improves outcomes; however, data on its prevalence and the frequency of anti‐neural/neuronal antibodies in Asian populations remain scarce.
Seong Jin Park, Jeanne May May Tan, Xuejuan Peng, Patricia Yut Wan Wong, Karine Su Shan Tay, Angelia Swee Hoon Koe, Janis Siew Noi Tye, Josiah Yui Huei Chai, Pei Xuan Koh, Yee Leng Tan, Sheila Srinivasan, Ngai Kun Loh, Nigel Choon Kiat Tan, Kevin Tan, Tianrong Yeo   +14 more
wiley   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Electroclinical classification of idiopathic generalized epilepsy syndromes at initial evaluation: A prospective multicenter study

Epilepsia Open, EarlyView.
Abstract Objective To determine the extent to which electroclinical information available at initial evaluation allows classification of idiopathic generalized epilepsy (IGE) syndromes, and to assess the contributions of seizure semiology and age at seizure onset to early syndromic diagnosis.
Omar Nawfal, Heba Samara, Wassim Nasreddine, Fatima Jaafar, Mahasen Reda, Tarek Halabi, Ahmad Beydoun   +6 more
wiley   +1 more source

Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood.
Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu   +5 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Acute and Chronic Local Field Potential Recordings in Dystonia—A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Dystonia is a hyperkinetic movement disorder increasingly conceptualized as a disorder of distributed network dysfunction involving the basal ganglia, cortex and cerebellum. Local field potentials (LFPs) recorded from deep brain stimulation (DBS) electrodes provide a unique opportunity to characterize the electrophysiological signatures ...
Jack Horan, Eoghan Donlon, Aoibheann Gill, Rosalyn Moran, Conor Fearon, Richard A. Walsh, Catherine Moran   +6 more
wiley   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source