Results 231 to 240 of about 671,361 (363)

Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

open access: yesStem Cell Research
Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by ...
Song Su   +7 more
doaj  

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

open access: yesAnnals of Neurology, EarlyView.
Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner   +4 more
wiley   +1 more source

Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment. [PDF]

open access: yesCurr Neurol Neurosci Rep
Clayton LM   +3 more
europepmc   +1 more source

DIETARY TREATMENT OF EPILEPSY [PDF]

open access: green, 1920
C. Mirallié
openalex   +1 more source

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

open access: yesAnnals of Neurology, EarlyView.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano   +13 more
wiley   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

open access: yesAnnals of Neurology, EarlyView.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa   +11 more
wiley   +1 more source

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