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UnknownBrain functional connectivity changes in amyotrophic lateral sclerosis with apathy and depression.
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S-EPMC12259760 | biostudies-literature
UnknownImpaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
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S-EPMC3762699 | biostudies-literature
UnknownCase report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases.
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S-EPMC10339345 | biostudies-literature
UnknownNeuroimaging Changes in Menkes Disease, Part 2.
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S-EPMC7963635 | biostudies-literature
UnknownTreatment with metformin in twelve patients with Lafora disease.
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S-EPMC6588886 | biostudies-literature
UnknownNext-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
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S-EPMC11450606 | biostudies-literature
UnknownFunctional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
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S-EPMC9234691 | biostudies-literature
UnknownNational survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
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S-EPMC11877070 | biostudies-literature
UnknownProgressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
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S-EPMC10235579 | biostudies-literature
UnknownTrends in epilepsy surgery in Italy before and after the COVID-19 pandemic: A nationwide study.
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S-EPMC12661257 | biostudies-literature
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