A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
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https://datadryad.org/dataset/doi:10.5061/dryad.v41ns1rsd
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资源简介：
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.
提供机构：
Dryad
创建时间：
2020-10-27
