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August 2020; 6 (4) Clinical/Scientific NotesOpen Access

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

View ORCID ProfileMartin Paucar, Tobias Granberg, View ORCID ProfileKristina Lagerstedt-Robinson, Elisabet Waldenlind, Sven Petersson, Love Nordin, Per Svenningsson
First published July 7, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000474
Martin Paucar
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Tobias Granberg
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Kristina Lagerstedt-Robinson
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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  • ORCID record for Kristina Lagerstedt-Robinson
Elisabet Waldenlind
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Sven Petersson
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Love Nordin
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Per Svenningsson
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Citation
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
Martin Paucar, Tobias Granberg, Kristina Lagerstedt-Robinson, Elisabet Waldenlind, Sven Petersson, Love Nordin, Per Svenningsson
Neurol Genet Aug 2020, 6 (4) e474; DOI: 10.1212/NXG.0000000000000474

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    Figure 1 Spectroscopy of the index case before (A) and after treatment (B)

    The T2-weighted images to the right show the location of a 30 × 20 × 20 mm volume of interest in a midsagittal, coronal, and transverse plane. The described voxel was averaged 200 times, and the resulting 1H-MR spectrum is displayed to the left where the main peaks for glutamine and glutamate have been highlighted. In the first measurement, A, the Glx concentration was measured to 3.865 mmoL/kg (SD 10%) in the left frontoparietal region. In the second measurement, B, Glx concentration was measured to 4.580 mmoL/kg (SD 11%).

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