Severe infantile epilepsies: molecular genetics challenge clinical classification

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences·2023

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.

Neurology·2023

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Genes·2023

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

Annals of neurology·2023

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

The Lancet. Neurology·2023

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.

Epilepsia·2023

Mechanochemical endothelial-astrocyte signalling via Piezo1-Epac1 drives neurovascular injury after stroke.

Brain : a journal of neurology·2026

Adoptive T-cell therapies in neuroinfectious and neuroinflammatory diseases.

Brain : a journal of neurology·2026

Mapping basal ganglia circuitry in altered states of consciousness: from pathology to pharmacology.

Brain : a journal of neurology·2026

Defining the underlying pathology of corticobasal syndrome using clinical features and biomarkers.

Brain : a journal of neurology·2026

Intron retention in health and amyotrophic lateral sclerosis.

Brain : a journal of neurology·2026

Multilevel impairment of mitochondrial respiration in inclusion body myositis.

Brain : a journal of neurology·2026

Effects of Glycemic Status and Antidiabetic Agents on the Recurrence of Chronic Rhinosinusitis with Nasal Polyps: A Multicenter Study.

American journal of rhinology & allergy·2026

Selective Intrinsically Photosensitive Retinal Ganglion Cells Ablation Regulates Myopia Development Through the Choroid/MAPK Pathway.

Current eye research·2026

The gut microbiome and allograft outcomes: implications for heart transplantation.

The Journal of clinical investigation·2026

Early-life internalizing behavioral trajectories and childhood-onset asthma: An epigenetic link.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology·2026

Related Experiment Videos

Severe infantile epilepsies: molecular genetics challenge clinical classification

Related Concept Videos

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.

Mechanochemical endothelial-astrocyte signalling via Piezo1-Epac1 drives neurovascular injury after stroke.

Adoptive T-cell therapies in neuroinfectious and neuroinflammatory diseases.

Mapping basal ganglia circuitry in altered states of consciousness: from pathology to pharmacology.

Defining the underlying pathology of corticobasal syndrome using clinical features and biomarkers.

Intron retention in health and amyotrophic lateral sclerosis.

Multilevel impairment of mitochondrial respiration in inclusion body myositis.

Effects of Glycemic Status and Antidiabetic Agents on the Recurrence of Chronic Rhinosinusitis with Nasal Polyps: A Multicenter Study.

Selective Intrinsically Photosensitive Retinal Ganglion Cells Ablation Regulates Myopia Development Through the Choroid/MAPK Pathway.

The gut microbiome and allograft outcomes: implications for heart transplantation.

Early-life internalizing behavioral trajectories and childhood-onset asthma: An epigenetic link.

Related Experiment Videos

Severe infantile epilepsies: molecular genetics challenge clinical classification

Related Concept Videos

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