"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum

High-throughput evidence generation to support tentative gene-disease relationship from a cohort enriched for autozygosity and founder effect.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Interictal thalamocortical network configuration is associated with susceptibility to seizure-related impaired consciousness in focal epilepsy.

NeuroImage·2026

Closed-loop stimulation modulates attention shifting in children.

Nature neuroscience·2026

Clinical characteristics and treatment outcomes of epileptic spasms: Comparative analysis of 277 patients by age at onset (2 years).

Seizure·2026

Association of Brain Network Perturbations With Response to Vagus Nerve Stimulation in Children With Drug-Resistant Focal Epilepsy.

Neurology·2026

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

Journal of neurosurgery. Pediatrics·2026

Temporal evolution of EEG hallmarks in childhood Lennox-Gastaut syndrome.

Seizure·2026

Addressing stigma in epilepsy care: a systematic review of personalized anti-stigma interventions.

Seizure·2026

DHDDS variants in epilepsy and movement disorders: Two novel mutations and an updated literature review.

Seizure·2026

Acetazolamide in drug-resistant epilepsy: a systematic review with meta-analysis.

Seizure·2026

Psychosocial correlates of seizure frequency in Functional/Dissociative Seizures (FDS): A systematic review.

Seizure·2026

Stereoelectroencephalography-based anatomo-electro-clinical subtyping reveals network-specific organization in parietal lobe epilepsy.

Seizure·2026

Internalized weight stigma as a mediator between past weight stigma and current healthcare avoidance/comfort in seeking medical care.

Journal of health psychology·2026

Osteopetrosis masquerading as hereditary hemolytic anemia: A case report of a 13-year-old girl with massive splenomegaly.

Radiology case reports·2026

Peripheral Precocious Puberty as the Initial Manifestation of Juvenile Granulosa Cell Tumor in Early Childhood.

Cureus·2026

Massive Pericardial Effusion as a Manifestation of Severe Autoimmune Hypothyroidism in an Adolescent With Down Syndrome: Importance of Early Recognition and Thyroid Hormone Replacement.

Clinical case reports·2026

"Make sure you involve us" - Youth experiences, care needs, and areas for intervention across the TB care journey in East Africa: a qualitative study.

Research square·2026

Stent-graft placement for an axillosubclavian artery injury in a pediatric patient: A case report.

Radiology case reports·2026

Related Experiment Videos

"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum

Related Concept Videos

High-throughput evidence generation to support tentative gene-disease relationship from a cohort enriched for autozygosity and founder effect.

Interictal thalamocortical network configuration is associated with susceptibility to seizure-related impaired consciousness in focal epilepsy.

Closed-loop stimulation modulates attention shifting in children.

Clinical characteristics and treatment outcomes of epileptic spasms: Comparative analysis of 277 patients by age at onset (2 years).

Association of Brain Network Perturbations With Response to Vagus Nerve Stimulation in Children With Drug-Resistant Focal Epilepsy.

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

Temporal evolution of EEG hallmarks in childhood Lennox-Gastaut syndrome.

Addressing stigma in epilepsy care: a systematic review of personalized anti-stigma interventions.

DHDDS variants in epilepsy and movement disorders: Two novel mutations and an updated literature review.

Acetazolamide in drug-resistant epilepsy: a systematic review with meta-analysis.

Psychosocial correlates of seizure frequency in Functional/Dissociative Seizures (FDS): A systematic review.

Stereoelectroencephalography-based anatomo-electro-clinical subtyping reveals network-specific organization in parietal lobe epilepsy.

Internalized weight stigma as a mediator between past weight stigma and current healthcare avoidance/comfort in seeking medical care.

Osteopetrosis masquerading as hereditary hemolytic anemia: A case report of a 13-year-old girl with massive splenomegaly.

Peripheral Precocious Puberty as the Initial Manifestation of Juvenile Granulosa Cell Tumor in Early Childhood.

Massive Pericardial Effusion as a Manifestation of Severe Autoimmune Hypothyroidism in an Adolescent With Down Syndrome: Importance of Early Recognition and Thyroid Hormone Replacement.

"Make sure you involve us" - Youth experiences, care needs, and areas for intervention across the TB care journey in East Africa: a qualitative study.

Stent-graft placement for an axillosubclavian artery injury in a pediatric patient: A case report.

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"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum

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