Results 151 to 160 of about 5,459 (165)

N-Acetyl-leucine in progressive CACNA1A ataxia: A case series

European Journal of Paediatric Neurology
Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy.
Argirios Dinopoulos, Massimo Giorgi, Kyriakos Martakis   +2 more
exaly   +2 more sources

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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

European Journal of Paediatric Neurology, 2021
Laurent Villard, Luc Valton, Claude Cances   +2 more
exaly  

The complexities of CACNA1A in clinical neurogenetics

Journal of Neurology, 2021
Maartje Pennings, Erik-Jan Kamsteeg, J H L M van Bokhoven   +2 more
exaly  

Instrumented gait analysis defines the walking signature of CACNA1A disorders

Journal of Neurology, 2021
Gregor Wenning, Cecilia Raccagni, Matthias Amprosi   +2 more
exaly  

Seizure response to carbamazepine in a patient with CACNA1A-associated epilepsy: A case report

Seizure: the Journal of the British Epilepsy Association, 2023
Paolo Solla, Francesca Pinna
exaly  

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature

European Journal of Neurology, 2019
Elisabetta Indelicato, Werner Poewe
exaly  

Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population

Seizure: the Journal of the British Epilepsy Association, 2015
Lili Long, Bo Xiao, Hongyu Long
exaly  

CACNA1A Nonsense Mutation is Associated With Basilar‐Type Migraine and Episodic Ataxia Type 2

Headache, 2009
Matthew Robbins
exaly  

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

European Journal of Paediatric Neurology, 2017
Massimiliano Valeriani, Federico Vigevano, Enrico Bertini   +2 more
exaly  

Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia

American Journal of Human Genetics, 1999
Anne Ducros, Elisabeth Tournier-Lasserve, Anne Joutel   +2 more
exaly