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UnknownKetogenic diet in a patient with refractory status epilepticus due to POLG mutation.
Not available
S-EPMC7802623 | biostudies-literature
UnknownCharacteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
Not available
S-EPMC8104163 | biostudies-literature
UnknownLanguage Dominance in Patients With Malformations of Cortical Development and Epilepsy.
Not available
S-EPMC6881376 | biostudies-literature
UnknownBi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Not available
S-EPMC6218634 | biostudies-literature
UnknownKCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Not available
S-EPMC6649617 | biostudies-literature
UnknownMutations in ROGDI Cause Kohlschutter-Tonz Syndrome.
Not available
S-EPMC3322220 | biostudies-literature
UnknownExome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Not available
S-EPMC5839048 | biostudies-literature
UnknownKCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Not available
S-EPMC6295419 | biostudies-literature
UnknownMonogenic variants in dystonia: an exome-wide sequencing study.
Not available
S-EPMC8246240 | biostudies-literature
UnknownEvaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Not available
S-EPMC4798642 | biostudies-literature
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