Results 71 to 80 of about 8,275 (187)
Epilepsia Open, EarlyView.Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood +11 more
wiley +1 more source
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
, 2007 OBJECTIVE: We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene.
Désir, Julie +9 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objective To evaluate the occurrence, clinical correlates, and screening accuracy of depressive symptoms (DS) among adults with epilepsy in Georgia, a country with limited mental health resources. Methods We conducted a cross‐sectional study in adults with epilepsy attending a tertiary care center. We assessed DS using two validated tools: the
Ketevan Silagadze +5 more
wiley +1 more source
Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report
, 2018 Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and ...
Yong-hong YI +3 more
core +1 more source
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
, 2019 Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication.
Kristina Krause (355693) +9 more
core +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 +2 more
wiley +1 more source
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 +4 more
wiley +1 more source
Recent developments in the quest for myoclonic epilepsy genes
, 2003 Summary: Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology.
Rubio-Donnadieu, Francisco +16 more
core +1 more source
Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy. [PDF]
eNeurologicalSci, 2023 Boongird A, Termsarasab P, Pulkes T.
europepmc +1 more source