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A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

Citation

Paucar, Martin et al. (2020), A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes, Dryad, Dataset, https://doi.org/10.5061/dryad.v41ns1rsd

Abstract

Familial hemiplegic migraine (FHM) is a group of rare familial disorders caused, in most cases, by mutations in CACNA1A and ATP1A2.1 Heterozygous mutations in solute carrier family 1 member 3 (SLC1A3), encoding glial glutamate transporter, are associated with episodic ataxia type 6 (EA6).2,5 In addition to episodic ataxia (EA), alternating hemiplegia and hemiplegic migraine have been reported twice in patients with EA6.2,4 Mutations in SLC1A3 are very rare; screenings in cohorts of EA and alternating hemiplegia have yielded either negative results3,6,8 or variants of unclear significance.e-1--e-3 Herein, we characterize a patient featuring sporadic hemiplegic migraine (SHM) responsive to acetazolamide (ACZ) and mild cerebellar atrophy associated with a new variant in SLC1A3. We also report the utility of proton magnetic resonance spectroscopy (MRS) for this condition.

Funding

Region Stockholm

Region Stockholm