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Last Updated: 04/25/2025
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Found 152 publications
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.
Journal: Neurology
Published: March 03, 2025
A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: March 03, 2024
A challenging case of epilepsy in infancy with migrating focal seizures due to a de novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn).
Journal: Seizure
Published: January 17, 2024
Population-based study of rare epilepsy incidence in a US urban population.
Journal: Epilepsia
Published: December 15, 2023
Potassium Channel Subfamily T Member 1(KCNT1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: September 12, 2023
Use of ketogenic dietary therapy for drug-resistant epilepsy in early infancy.
Journal: Epilepsia open
Published: June 01, 2023
GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: March 16, 2023
EEG and clinical characteristics of neonatal parechovirus encephalitis.
Journal: Epilepsy research
Published: February 12, 2023
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Journal: Brain : a journal of neurology
Published: December 28, 2022
Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention.
Journal: Biochemical pharmacology
Published: November 07, 2022
Last Updated: 04/25/2025