Reply to Braun et al. "Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion"

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.

American journal of medical genetics. Part A·2026

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Genetics in medicine open·2026

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2025

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Genetics in medicine : official journal of the American College of Medical Genetics·2025

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.

International journal of molecular sciences·2025

Initial experience of bortezomib in cryptogenic new-onset refractory status epilepticus: a case series.

Seizure·2026

Quantitative EEG in typical absence seizures: a systematic review of spectral and entropy/complexity signatures.

Seizure·2026

Feasibility of detecting changes in diary-based seizure cycles following antiseizure medication changes: A retrospective pilot study.

Seizure·2026

Prolonged intervals persist beyond epileptologist referral in corpus callosotomy: A referral odyssey analysis.

Seizure·2026

A qualitative study of the barriers and enablers to antiseizure medication adherence in children with epilepsy.

Seizure·2026

Expanding the epilepsy spectrum in primary coenzyme Q10 deficiency with COQ4 variants - Case series and literature review.

Seizure·2026

Structured succession of a cross-kingdom microbiome drives degradation and detoxification of oolong tea waste.

Frontiers in microbiomes·2026

Mitigation of perfluorooctanoic acid immunotoxicity in Ruditapes philippinarum haemocytes by Lactobacillus plantarum Ps-8.

Ecotoxicology and environmental safety·2026

High-Frequency Repetitive Transcranial Magnetic Stimulation Attenuates Post-Stroke Brain Fibrosis by Increasing Brain-Derived Estrogen Levels: A Dual-Tracer PET/CT Study.

Molecular neurobiology·2026

Sewer biofilms as drivers of greenhouse gas emissions in urban sewer systems: mechanisms and control strategies.

Frontiers in microbiology·2026

Solar-driven butanedione-based disinfection: A by-product-free approach to pathogen control.

Fundamental research·2026

Predatory Mechanisms of Myxobacteria and Their Potential in the Development of Biocontrol Agents.

Journal of microbiology and biotechnology·2026

Related Experiment Videos

Reply to Braun et al. "Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion"

Related Concept Videos

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.

Initial experience of bortezomib in cryptogenic new-onset refractory status epilepticus: a case series.

Quantitative EEG in typical absence seizures: a systematic review of spectral and entropy/complexity signatures.

Feasibility of detecting changes in diary-based seizure cycles following antiseizure medication changes: A retrospective pilot study.

Prolonged intervals persist beyond epileptologist referral in corpus callosotomy: A referral odyssey analysis.

A qualitative study of the barriers and enablers to antiseizure medication adherence in children with epilepsy.

Expanding the epilepsy spectrum in primary coenzyme Q10 deficiency with COQ4 variants - Case series and literature review.

Structured succession of a cross-kingdom microbiome drives degradation and detoxification of oolong tea waste.

Mitigation of perfluorooctanoic acid immunotoxicity in Ruditapes philippinarum haemocytes by Lactobacillus plantarum Ps-8.

High-Frequency Repetitive Transcranial Magnetic Stimulation Attenuates Post-Stroke Brain Fibrosis by Increasing Brain-Derived Estrogen Levels: A Dual-Tracer PET/CT Study.

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Reply to Braun et al. "Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion"

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