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Last Updated: 10/31/2025

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Found 562 publications

NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis.

NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis.

Journal: Journal of human genetics
Published: August 23, 2025

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family.

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family.

Journal: BMJ neurology open
Published: July 29, 2025

Misleading EEG in CACNA1A mutation: A case of late-onset episodic ataxia type 2.

Misleading EEG in CACNA1A mutation: A case of late-onset episodic ataxia type 2.

Journal: Parkinsonism & related disorders
Published: July 08, 2025

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.

Journal: Clinical genetics
Published: June 17, 2025

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population-based study from the Norwegian Mother, Father, and Child Cohort Study.

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population-based study from the Norwegian Mother, Father, and Child Cohort Study.

Journal: Epilepsia
Published: June 16, 2025

DEPDC5-Related Familial Focal Epilepsy With Variable Foci-1: A Report of a Rare Case.

DEPDC5-Related Familial Focal Epilepsy With Variable Foci-1: A Report of a Rare Case.

Journal: Cureus
Published: May 22, 2025

Dissociating physiological ripples and epileptiform discharges with vision transformers.

Dissociating physiological ripples and epileptiform discharges with vision transformers.

Journal: bioRxiv : the preprint server for biology
Published: May 14, 2025

Factors predicting seizure control and delivery outcomes in women with epilepsy with planned and unplanned pregnancy.

Factors predicting seizure control and delivery outcomes in women with epilepsy with planned and unplanned pregnancy.

Journal: Revue neurologique
Published: April 26, 2025

Developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): Clinical and treatment insights from a cohort of 50 children.

Developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): Clinical and treatment insights from a cohort of 50 children.

Journal: Seizure
Published: April 17, 2025

Extracellular vesicle microRNAs are biomarkers of focal epilepsy but not epilepsy-related respiratory dysfunction.

Extracellular vesicle microRNAs are biomarkers of focal epilepsy but not epilepsy-related respiratory dysfunction.

Journal: Epilepsia
Published: April 02, 2025

A nnU-Net-based automatic segmentation of FCD type II lesions in 3D FLAIR MRI images.

A nnU-Net-based automatic segmentation of FCD type II lesions in 3D FLAIR MRI images.

Journal: Frontiers in artificial intelligence
Published: March 28, 2025

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Journal: BMC neurology
Published: March 27, 2025
Showing 1-12 of 562

Last Updated: 10/31/2025