Georgia Pepe

Athens, ESYE31, Greece

Last Updated: 09/26/2026

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Found 21 publications

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy.

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: April 17, 2026

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.

Journal: Molecular genetics & genomic medicine

Published: March 20, 2026

A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome.

A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome.

Journal: Neurogenetics

Published: January 20, 2026

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 21, 2025

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.

Journal: International journal of molecular sciences

Published: February 28, 2025

Charcot-Marie-tooth disease type 1 phenotype in a family with a novel myelin protein zero variant.

Charcot-Marie-tooth disease type 1 phenotype in a family with a novel myelin protein zero variant.

Journal: Journal of the neurological sciences

Published: December 10, 2024

Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG Syndrome.

Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG Syndrome.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: October 12, 2024

Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.

Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.

Journal: Laboratory medicine

Published: September 20, 2024

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.

Journal: Cancer genomics & proteomics

Published: June 26, 2024

Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.

Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.

Journal: Cancers

Published: September 19, 2023

Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.

Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.

Journal: Cancer genomics & proteomics

Published: May 29, 2023

The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine.

The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine.

Journal: Journal of the neurological sciences

Published: November 15, 2022

Showing 1-12 of 21

Last Updated: 09/26/2026