Cognitive deficits in episodic ataxia type 2 mouse models. [PDF]
Hum Mol Genet, 2021 Bohne P, Mourabit DB, Josten M, Mark MD.
europepmc +1 more source
Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye +2 more
wiley +1 more source
British Journal of Pharmacology, Volume 183, Issue 20, Page 6179-6198, October 2026.Background and Purpose Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder caused primarily by loss‐of‐function mutations in the voltage‐gated potassium channel Kv1.1 (KCNA1). Small molecules that restore Kv1.1 activity hold promise as targeted therapies for EA1, yet current pharmacological strategies remain limited ...
Rían W. Manville +6 more
wiley +1 more source
Neural Correlates of Intellectual Dysfunction in Episodic Ataxia Type 2. [PDF]
J Clin NeurolKim HJ +8 more
europepmc +1 more source
A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls. [PDF]
J Clin Neurol, 2021 Lee GB, Kim GY, Jeong IH, Kim N, Kim JW.
europepmc +1 more source
Cannabidiol in Adults With Lennox–Gastaut Syndrome: Real‐World Experience
European Journal of Neurology, Volume 33, Issue 10, October 2026.Cannabidiol showed sustained effectiveness and good tolerability in adults with LGS, with high retention over a median follow‐up of 41 months. Treatment was associated with improvement in seizure burden, increased seizure‐free days, fewer seizure‐related hospital admissions, and caregiver‐reported improvement in cognitive and behavioural functioning ...
Pyae Aung +9 more
wiley +1 more source
Overactive EAAT1 Cl<sup>-</sup> channels impair GABAergic tonic inhibition in SLC1A3-associated episodic ataxia. [PDF]
Acta Neuropathol CommunKostritskaia Y +12 more
europepmc +1 more source
Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation. [PDF]
Mov Disord Clin Pract, 2022 Bhattacharjee S +2 more
europepmc +1 more source
Response to equine cardiac adverse events during sports
Equine Veterinary Education, Volume 38, Issue 10, Page 556-564, October 2026.Summary Cardiac adverse events and sudden death are a feared scenario for equine veterinarians, with serious consequences for animal health, riders' safety and the social licence to operate equestrian sports. The response to equine cardiac adverse events (CAEs) during sports is poorly defined.
C. Navas de Solis +9 more
wiley +1 more source
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
, 2016 OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations.
Gemma L Carvill (13602328) +16 more
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