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Academic Journal

Neonatal phototherapy and risk of epilepsy—A Danish population based study

Subjects: Cohort; Epilepsy; Multivariable models

  • Source: Sun , Y , Dreier , J W , Wu , C , Petersen , J P , Henriksen , T B , Christensen , J & Maimburg , R D 2024 , ' Neonatal phototherapy and risk of epilepsy—A Danish

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Academic Journal

Clinical and molecular characterization of patients with YWHAG-related epilepsy

Subjects: epilepsy; genotype–phenotype correlation; YWHAG

  • Source: The YWHAG Study Group 2024 , ' Clinical and molecular characterization of patients with YWHAG-related epilepsy ' , Epilepsia , vol. 65 , no. 5 , pp. 1439-1450 .

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Academic Journal

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

Subjects: Cadherins/genetics; Cluster Analysis; Epilepsy/genetics

  • Source: de Nys , R , van Eyk , C L , Ritchie , T , Møller , R S , Scheffer , I E , Marini , C , Bhattacharjee , R , Kumar , R & Gecz , J 2024 , ' Multiomic analysis implicates nuclear hormone receptor

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Academic Journal

Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy:a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications

Subjects: classification; definition; drug resistance

  • Source: Rubboli , G , Beier , C P , Selmer , K K , Syvertsen , M , Shakeshaft , A , Collingwood , A , Hall , A , Andrade , D M , Fong , C Y , Gesche , J , Greenberg , D A , Hamandi , K , Lim , K S , Ng , C C

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Academic Journal

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Subjects: Infant; Newborn; Humans

  • Source: Happ , H C , Sadleir , L G , Zemel , M , de Valles-Ibáñez , G , Hildebrand , M S , McConkie-Rosell , A , McDonald , M , May , H , Sands , T , Aggarwal , V , Elder , C , Feyma , T , Bayat , A ,

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Academic Journal

Data-driven historical characterization of epilepsy-associated genes

Subjects: Epilepsy; Epilepsy genes; Genetics

  • Source: Macnee , M , Pérez-Palma , E , López-Rivera , J A , Ivaniuk , A , May , P , Møller , R S & Lal , D 2023 , ' Data-driven historical characterization of

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Academic Journal

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy

Subjects: ataxia; cerebellar signs; IRF2BPL

  • Source: Gardella , E , Michelucci , R , Christensen , H M , Fenger , C D , Reale , C , Riguzzi , P , Pasini , E , Albini-Riccioli , L , Papa , V , Foschini , M P , Cenacchi , G , Furia , F , Marjanovic , D ,

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Academic Journal

mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy:Preclinical and Human Genetics Data

Subjects: Absence epilepsy; cortico-thalamo-cortical network; EEG

  • Source: Celli , R , Striano , P , Citraro , R , Di Menna , L , Cannella , M , Imbriglio , T , Koko , M , Euro Epinomics-Cogie Consortium , De Sarro , G , Monn , J A , Battaglia , G , van Luijtelaar , G ,

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Academic Journal

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Subjects: Brain; Epilepsy/genetics; Genome-Wide Association Study

  • Source: International League Against Epilepsy Consortium on Complex Epilepsies 2023 , ' GWAS meta-analysis of over 29,000 people with epilepsy

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Academic Journal

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Subjects: ATP6V0C; epilepsy genetics; neurodevelopmental disorders

  • Source: Genomics England Research Consortium & Escayg , A 2023 , ' ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

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