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UnknownEarly Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Not available
S-EPMC6277296 | biostudies-literature
UnknownCortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy.
Not available
S-EPMC8459922 | biostudies-literature
UnknownPotential Link Between a Disruptive <i>CAPN6</i> Variant and Neurodevelopmental Disorders.
Not available
S-EPMC12897768 | biostudies-literature
UnknownWhite matter involvement in a family with a novel PDGFB mutation.
Not available
S-EPMC4867655 | biostudies-literature
UnknownClinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Not available
S-EPMC8424500 | biostudies-literature
UnknownAn integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Not available
S-EPMC9298868 | biostudies-literature
UnknownVariants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Not available
S-EPMC8665645 | biostudies-literature
UnknownIntronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Not available
S-EPMC6820779 | biostudies-literature
UnknownEpilepsy Course and Developmental Trajectories in STXBP1-DEE.
Not available
S-EPMC9157582 | biostudies-literature
UnknownItalian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Not available
S-EPMC8166462 | biostudies-literature
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