Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):243-245. doi: 10.1136/jnnp-2017-317849. Epub 2018 May 16.

Authors

Emma Matthews¹, Louise Hartley², Richa Sud³, Michael G Hanna¹, Francesco Muntoni⁴, Pinki Munot⁴

Affiliations

¹ MRC Centre for Neuromuscular Diseases, UCL and National Hospital for Neurology and Neurosurgery, London, UK.
² Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK.
³ Neurogenetics Unit, Institute of Neurology, London, UK.
⁴ Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

PMID: 29769250
DOI: 10.1136/jnnp-2017-317849

No abstract available

Keywords: channels; clinical neurology; myopathy; paediatric.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Acetazolamide / therapeutic use*
Adolescent
Anticonvulsants / therapeutic use*
Calcium Channels, L-Type / genetics*
Child
Female
Humans
Muscular Diseases / congenital*
Muscular Diseases / drug therapy*
Muscular Diseases / genetics
Mutation / genetics
NAV1.4 Voltage-Gated Sodium Channel / genetics*

Substances

Anticonvulsants
CACNA1S protein, human
Calcium Channels, L-Type
NAV1.4 Voltage-Gated Sodium Channel
SCN4A protein, human
Acetazolamide

Grants and funding