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Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity

• Authors : Lin, Susan X N; Ahring, Philip K; Keramidas, Angelo

Subjects: Animals; Humans; Infant

• Source: Lin , S X N , Ahring , P K , Keramidas , A , Liao , V W Y , Møller , R S , Chebib , M & Absalom , N L 2024 , ' Correlations of receptor desensitization of gain-of-function GABRB3 variants with

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Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

• Authors : de Nys, Rebekah; van Eyk, Clare L.; Ritchie, Tarin

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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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition

• Authors : Martins Custodio, Helena; Clayton, Lisa M; Bellampalli, Ravishankara

Subjects: Epilepsies; Myoclonic/genetics; Epilepsy/genetics

• Source: Martins Custodio , H , Clayton , L M , Bellampalli , R , Pagni , S , Silvennoinen , K , Caswell , R , Genomics England Research Consortium , Brunklaus , A , Guerrini , R , Koeleman , B P C , Lemke , J

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

• Authors : Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew

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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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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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

• Authors : Johannesen, Katrine M.; Nielsen, Jimmi; Sabers, Anne

Subjects: epilepsy; epilepsy genetics; intellectual disability

• Source: Johannesen , K M , Nielsen , J , Sabers , A , Isidor , B , Kattentidt-Mouravieva , A A , Zieglgänsberger , D , Heidlebaugh , A R , Oetjens , K F , Vidal , A A , Christensen , J , Tiller , J , Freed ,

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Solving the unsolved genetic epilepsies:Current and future perspectives

• Authors : Johannesen, Katrine M.; Tümer, Zeynep; Weckhuysen, Sarah

Subjects: DNA methylation; epilepsy; epilepsy genetics

• Source: Johannesen , K M , Tümer , Z , Weckhuysen , S , Barakat , T S & Bayat , A 2023 , ' Solving the unsolved genetic epilepsies : Current and future perspectives ' , Epilepsia , vol. 64 , no. 12 , pp.

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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

• Authors : Absalom, Nathan L.; Liao, Vivian W.Y.; Johannesen, Katrine M.H.

Subjects: Epilepsy/genetics; Gain of Function Mutation; Humans

• Source: Absalom , N L , Liao , V W Y , Johannesen , K M H , Gardella , E , Jacobs , J , Lesca , G , Gokce-Samar , Z , Arzimanoglou , A , Zeidler , S , Striano , P , Meyer , P , Benkel-Herrenbrueck , I , Mero

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The gain of function SCN1A disorder spectrum:novel epilepsy phenotypes and therapeutic implications

• Authors : Brunklaus, Andreas; Brünger, Tobias; Feng, Tony

Subjects: SCN1A; arthrogryposis; epilepsy

• Source: Brunklaus , A , Brünger , T , Feng , T , Fons , C , Lehikoinen , A , Panagiotakaki , E , Vintan , M-A , Symonds , J , Andrew , J , Arzimanoglou , A , Delima , S , Gallois , J , Hanrahan , D , Lesca ,

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Expanding the phenotype of PURA-related developmental epileptic encephalopathy

• Authors : Rubboli, Guido; Johannesen, Katrine M.

Subjects: Child; DNA-Binding Proteins/genetics; Developmental Disabilities/genetics

• Source: Rubboli , G & Johannesen , K M 2022 , ' Expanding the phenotype of PURA-related developmental epileptic encephalopathy ' , Epileptic Disorders , vol. 24 , no. 2 , pp. 445-446 .

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