A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia

Tedesco Silva, L. M., Sharma, S., Schrauwen, I., Margolesky, J., & Detyniecki, K. (2022). A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia. The Cerebellum, 22(5), 1029–1033. https://doi.org/10.1007/s12311-022-01458-5
Authors:
Leticia Maria Tedesco Silva
Sonali Sharma
Isabelle Schrauwen
Jason Margolesky
Kamil Detyniecki
Affiliated Authors:
Isabelle Schrauwen
Subjects:
Acetazolamide (MeSH)
Ataxia (MeSH)
Author Keywords:
episodic ataxia
epilepsy
hecw2
adult
Publication Type:
Article
Unique ID:
10.1007/s12311-022-01458-5
PMID:
Journal:
Publication Date:
Data Source:
PubMed

Record Created: