The genetics of rolandic epilepsy

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Der Nervenarzt·2017

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

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Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2015

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).

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Status epilepticus in adults: From etiology to treatment response.

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Altered cortical synchronization in photosensitive idiopathic generalized epilepsy.

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Clinical significance of subclinical seizures in epilepsy presurgical evaluation: A systematic review and meta-analysis.

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Clinical subtypes and sleep-wake evolution pattern in epilepsy manifesting as sleep-related seizures.

Epilepsia·2026

Cross-material memory prediction: Influence of preoperative visual memory on postoperative verbal memory change after left anterior temporal lobe resection in people with epilepsy.

Epilepsia·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

International journal of molecular sciences·2026

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

International journal of molecular sciences·2026

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

Cells·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

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The genetics of rolandic epilepsy

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N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.

Fully percutaneous fetoscopic repair of myelomeningocele: 30-month follow-up data.

[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

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