Automated Author Profile

Waldenlind, Elisabet

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Current S-Index

2.0

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

2.0

Average Dataset Index per dataset

Total Datasets

1

Total datasets for this author

Average FAIR Score

76.9%

Average FAIR Score per dataset

Total Citations

2

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes (Version: 9)

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.

Authors

  • Paucar, Martin ;
  • Granberg, Tobias ;
  • Robinson, Kristina Lagerstedt ;
  • Waldenlind, Elisabet ;
  • Petersson, Sven ;
  • Nordin, Love ;
  • Svenningsson, Per
2 Citations0 Mentions77% FAIR2.3 Dataset Index
10.5061/dryad.v41ns1rsdOctober 2021