Results 151 to 160 of about 7,269 (167)

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

International Journal of Molecular Sciences, 2020
Edward Glasscock, Lauren A McCormick
exaly  

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy

European Journal of Medical Genetics, 2022
Angelo Russo, Guido Rubboli, Pasquale Striano   +2 more
exaly  

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

Frontiers in Cellular Neuroscience, 2015
Fabio Franciolini, Luigi Catacuzzeno, Maria Cristina D'Adamo   +2 more
exaly  

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

Neurology, 2010
Dimitri Kullmann, Stephanie Schorge, H R Morris   +2 more
exaly  

Episodic ataxia associated with a de novo SCN2A mutation

European Journal of Paediatric Neurology, 2016
Maja Tarailo-Graovac, William Gibson, Juliette Hukin   +2 more
exaly  

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

EMBO Journal, 1998
John Adelman, Mauro Pessia, James Maylié   +2 more
exaly  

Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2)

Journal of Neurology, 2004
Hanna Harno, Mari Anneli Kaunisto, Maija Wessman   +2 more
exaly  

Kinesigenic Triggers in Episodic Ataxia Type 1

Movement Disorders Clinical Practice, 2020
Claudio de Gusmão, Aaron Jesuthasan, Alex Paciorkowski   +2 more
exaly  

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Brain, 1999
Dimitri Kullmann, Rohan de Silva, Nicholas Wood   +2 more
exaly