pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines. We describe a patient with compound heterozygous variants, infantile epilepsy with status epilepticus, paroxysmal dyskinesia and episodic ataxia. Testing revealed a pathogenic duplication (c.649dupC), and a likely pathogenic missense variant (c.916G>A). His presentation meets the severe phenotypic category with a combination of at least 3 neurological symptoms: seizures and status epilepticus, prolonged episodic ataxia, and paroxysmal dyskinesia. This further expands the clinical findings related to , and suggests that compound heterozygous variants could confer a severe phenotype.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525261 | PMC |
| http://dx.doi.org/10.1016/j.ebcr.2016.12.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A conifer metabolite corrects episodic ataxia type 1 by voltage sensor-mediated ligand activation of Kv1.1.
Proc Natl Acad Sci U S A
January 2025
Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA 92697.
Loss-of-function sequence variants in , which encodes the voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy. Due to a paucity of drugs that directly rescue mutant Kv1.
View Article and Find Full Text PDFClinical characterization of a novel p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.
Brain Commun
December 2024
Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Familial hemiplegic migraine type 2 results from pathogenic variants in the gene, which encodes for a catalytic subunit of sodium/potassium ATPase. This extremely rare autosomal dominant disorder manifests with a spectrum of symptoms, most commonly pure hemiplegic phenotype, epilepsy, and/or intellectual disability. In this study, we detail the clinical features and genetic analysis of nine patients from a large family spanning four generations, with all carrying a previously unreported likely pathogenic variant, p.
View Article and Find Full Text PDFClinical characterization of a novel episodic ataxia in young working Cocker Spaniels.
J Vet Intern Med
December 2024
Small Animal Hospital, School of Veterinary Medicine, University of Glasgow, Glasgow, United Kingdom.
Background: Episodic ataxias (EAs) are a rare group of paroxysmal movement disorders (PMD) described in human medicine with only one suspected case described in veterinary literature.
Hypothesis/objectives: This study aimed to provide clinical description of a suspected primary EA in working Cocker Spaniel (WCS) dogs.
Animals: Seven WCS dogs with suspected primary EA.
KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.
Mov Disord Clin Pract
December 2024
Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.
Article Synopsis
- - KCNMA1-linked channelopathy leads to neurodevelopmental disorders, epilepsy, and non-epileptic episodes characterized by specific facial, behavioral, and physical symptoms.
- - A review of 14 videos highlighted typical episode features: facial changes, behavioral arrest, loss of postural control, and quick recovery without drowsiness, with episodes often triggered by emotions.
- - Distinguishing KCNMA1-related attacks from other conditions like paroxysmal dyskinesia and cataplexy will improve accurate diagnosis and targeted treatment for affected individuals.
Pin1 promotes human Ca2.1 channel polyubiquitination by RNF138: pathophysiological implication for episodic ataxia type 2.
Cell Commun Signal
November 2024
Department of Physiology, College of Medicine, National Taiwan University, Taipei, 100, Taiwan.
Loss-of-function mutations in the human gene encoding the neuron-specific Ca channel Ca2.1 are linked to the neurological disease episodic ataxia type 2 (EA2), as well as neurodevelopmental disorders such as developmental delay and developmental epileptic encephalopathy. Disease-associated Ca2.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!