Jillian L. Mckee

Jillian L. Mckee

Pediatrics | Pediatric Neurology

3401 Civic Center Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 33 publications

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 2026

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

Journal: Epilepsia

Published: February 16, 2026

A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.

A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Journal: Epilepsia

Published: December 02, 2025

Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with STXBP1 Related Disorders and SYNGAP1 Related Disorders.

Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with STXBP1 Related Disorders and SYNGAP1 Related Disorders.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders.

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders.

Journal: Developmental medicine and child neurology

Published: November 05, 2025

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Journal: Molecular psychiatry

Published: October 20, 2025

Quantification of neuromotor control in STXBP1 -Related Disorders with wearable sensors.

Quantification of neuromotor control in STXBP1 -Related Disorders with wearable sensors.

Journal: medRxiv : the preprint server for health sciences

Published: October 03, 2025

Medication Barriers in Pediatric Patients With Epilepsy.

Medication Barriers in Pediatric Patients With Epilepsy.

Journal: Pediatric neurology

Published: October 02, 2025

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 26, 2025

Showing 1-12 of 33

Last Updated: 09/26/2026