Results 11 to 20 of about 8,275 (187)

Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C. [PDF]

BMJ Neurol Open, 2021
Introduction Mitochondrial diseases exhibit wide phenotypic heterogeneity, and can present as progressive myoclonic epilepsy.Summary We report a case of adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies due to m ...
Khoo A, Naidu S, Wijayendran SB, Merve A, Bremner F, Sidhu MK.   +5 more
europepmc   +2 more sources

Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy [PDF]

, 2023
Objective: Familial Adult Myoclonic Epilepsy (FAME) presents with action-activated myoclonus, often associated with epilepsy, sharing various features with Progressive Myoclonic Epilepsy (PMEs), but with slower course and limited motor disability.
Visani, Elisa, Silvana Franceschetti, Panzica, Ferruccio, Coppola, Antonietta, Striano, Pasquale, Laura Canafoglia, Pasquale Striano, Canafoglia, Laura, Ferruccio Panzica, Franceschetti, Silvana, Elisa Visani, Antonietta Coppola   +11 more
core   +1 more source

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy. [PDF]

BMC Neurol
Background Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various ...
Naderian R, Vafaeian F, Hoseini SM, Sanami S.   +3 more
europepmc   +2 more sources

Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy. [PDF]

Brain Commun
Repeat expansions are a known cause of progressive myoclonic epilepsy (PME) and familial adult myoclonic epilepsy (FAME). We hypothesized that PME and FAME may have an overlapping phenotypic spectrum and searched for pathogenic repeat expansions in 18 ...
Bennett MF, Corbett MA, Kroes T, Canafoglia L, Oliver KL, Cameron JM, Sikta N, Munro J, Fearnley LG, Ibañez K, Tucci A, Sisodiya SM, Hildebrand MS, Scheffer IE, Courage C, Lehesjoki AE, Giuliano L, Didato G, Franceschetti S, Gecz J, Berkovic SF, Bahlo M.   +21 more
europepmc   +2 more sources

Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants. [PDF]

Heliyon
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy.
Yin X, Shi J, Mei D, Guo J, Ma T, Gao Y, Wang L, Deng J.   +7 more
europepmc   +2 more sources

MYOCLONIC EPILEPSY OF LATE-ONSET IN TRISOMY-21 [PDF]

, 1995
We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia ...
Lm. Li, SANDER, JWAS, ODONOGHUE, NF, J.W.A.S. Sander, LI, LM, M.F. O'donoghue   +5 more
core   +1 more source

Spinal Muscular Atrophy With Myoclonic Epilepsy

, 2017
Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Faik BUDAK, Buket ÖZKARA
core   +1 more source

Audiogenic reflex seizures in cats

, 2015
This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Sparkes, A, Harvey, Robert J, Bessant, C, Lowrie, M, Garosi, L, Harvey, RJ   +5 more
core   +1 more source

Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report

, 2016
Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in ...
Dinesh Khandelwal, Banshi Lal Kumawat, Chandra Mohan Sharma, Rajendra Kumar Pandey   +3 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source