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Last Updated: 01/07/2026

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Found 585 publications

Polymicrogyria with periventricular nodular heterotopia.

Polymicrogyria with periventricular nodular heterotopia.

Journal: Acta neurologica Belgica
Published: September 09, 2025

The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.

The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.

Journal: Annals of human genetics
Published: August 28, 2025

Letter to the editor: MR fingerprinting for epileptogenic cortical malformations - A path to precision epilepsy care.

Letter to the editor: MR fingerprinting for epileptogenic cortical malformations - A path to precision epilepsy care.

Journal: Journal of the neurological sciences
Published: August 15, 2025

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

Journal: Radiology case reports
Published: August 13, 2025

Bilateral mesial temporal polymicrogyria: a case report.

Bilateral mesial temporal polymicrogyria: a case report.

Journal: BMJ case reports
Published: August 09, 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

Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.

Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.

Journal: Brain & development
Published: May 14, 2025

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Journal: Epilepsy & behavior reports
Published: May 13, 2025

A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes.

A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes.

Journal: Molecular genetics & genomic medicine
Published: May 09, 2025

Modeling MPPH syndrome in vivo using Breasi-CRISPR.

Modeling MPPH syndrome in vivo using Breasi-CRISPR.

Journal: HGG advances
Published: May 01, 2025

An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome.

An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome.

Journal: Case reports in genetics
Published: April 17, 2025

Automated detection of polymicrogyria in pediatric patients using deep learning.

Automated detection of polymicrogyria in pediatric patients using deep learning.

Journal: Scientific reports
Published: April 16, 2025
Showing 1-12 of 585

Last Updated: 01/07/2026