IndraLab

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Sodium(1+) inhibits SCN1A. 3 / 3
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"Identification of a precise genetic etiology can direct physicians to (i) prescribe treatments that correct specific metabolic defects (e.g., the ketogenic diet for GLUT1 deficiency, or pyridoxine for pyridoxine dependent epilepsies); (ii) avoid antiepileptic drugs (AEDs) that can aggravate the pathogenic defect (e.g., sodium channel blocking drugs in SCN1A related Dravet syndrome), or (iii) select AEDs that counteract the functional disturbance caused by the gene mutation (e.g., sodium channel blockers for epilepsies due to gain-of-function SCN8A mutations)."
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"These findings suggest the hypothesis that loss of sodium currents in different classes of GABAergic neurons may underlie the multiple co-morbidities in SMEI, including light hypersensitivity, altered circadian rhythms, and cognitive impairment."
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"We conclude that SMEI is caused either by complete loss of SCN1A function, or by dysfunctional sodium channels exhibiting mixed biophysical properties."
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