Results 21 to 30 of about 8,275 (187)
, 2021 Introduction: Patients with myoclonic jerks and seizures represent a diagnostic and therapeutic challenge as they fall under the differential diagnosis of uncommon and often difficult to diagnose diseases.
L. Polizzi +9 more
core
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran. [PDF]
Int Med Case Rep J, 2019 Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric ...
Shervin Badv R +4 more
europepmc +2 more sources
SERPINI1pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy
, 2017 Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing.
Marie-Pascale Pittet +23 more
core +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case
, 2016 Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene. In type 1 sialidosis, a "cherry-red spot" can be observed in fundoscopic examinations.
Muona, Mikko +8 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca +10 more
wiley +1 more source
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
, 2014 Objective: We report a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome including severe myoclonic epilepsy, progressive spastic tetraparesis ...
Weber, Yvonne +14 more
core +1 more source