Results 91 to 100 of about 8,171 (145)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
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, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 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

Are comorbid sleep disorders associated with higher risk for sudden unexpected death in epilepsy? Observations from a Canadian epilepsy clinic

Epilepsia, Volume 67, Issue 9, Page 4590-4599, September 2026.
Abstract Objective Pooled mortality is nearly three times higher in people with epilepsy (PWE). Approximately 80% of sudden unexpected death in epilepsy (SUDEP) events occur during sleep, and primary sleep disorders are prevalent in the general population and PWE.
Marion Lazaj, Ellen Lee, Tristan Derry, Helen Driver, Gavin P. Winston, Lysa Boissé Lomax, Ana Johnson, Garima Shukla   +7 more
wiley   +1 more source

Plasma Lactate Response to a 12‐Min Walk Test Is a Poor Diagnostic Biomarker for Mitochondrial Myopathy

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial myopathy (MM) represents a group with a broad phenotypic spectrum which complicates the diagnostic process. This study investigated whether plasma lactate changes following a 12‐min walk test (12MWT) and 20‐min recovery could be a diagnostic screening tool for MM. Thirty patients with MM and 19 healthy controls (HC) participated.
Christine Lando, Tahmina Khawajazada, Jesper Helbo Storgaard, Nanna Scharff Poulsen, John Vissing, Nicoline Løkken   +5 more
wiley   +1 more source

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

Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly ...
Olivia Hahl, Mika H. Martikainen
wiley   +1 more source

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. [PDF]

Clin Dysmorphol, 2022
Narayanan DL, Somashekar PH, Majethia P, Shukla A.   +3 more
europepmc   +1 more source

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report. [PDF]

Front Neurol, 2022
Wang Y, Wang SY, Li K, Zhu YL, Xia K, Sun DD, Ai WL, Fu XM, Ye QR, Li J, Chen HZ.   +10 more
europepmc   +1 more source

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association. [PDF]

J Neurosci Rural Pract, 2021
Radhakrishnan DM, Shree R, Madhaw G, Manchanda R, Mahadevan A, Kumar N.   +5 more
europepmc   +1 more source

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

Neurobiol Dis, 2023
Bernardi S, Gemignani F, Marchese M.
europepmc   +1 more source