Francesca Madia

Genoa, Italy

Last Updated: 09/26/2026

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Found 64 publications

Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants.

Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants.

Journal: Seizure

Published: May 11, 2026

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Journal: Children (Basel, Switzerland)

Published: March 25, 2026

Sudoscan as tool to detect cholinergic dysautonomia in paucisymptomatic botulism.

Sudoscan as tool to detect cholinergic dysautonomia in paucisymptomatic botulism.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: March 10, 2026

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Journal: European journal of medical genetics

Published: January 07, 2026

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: December 13, 2025

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: December 13, 2025

Expanding the phenotypic Spectrum of ZNF711: Autism and epilepsy in two siblings.

Expanding the phenotypic Spectrum of ZNF711: Autism and epilepsy in two siblings.

Journal: Epilepsy & behavior reports

Published: November 24, 2025

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Journal: Epilepsia open

Published: October 24, 2025

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

Journal: European journal of medical genetics

Published: September 05, 2025

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Journal: Clinical genetics

Published: April 16, 2025

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

Journal: Prenatal diagnosis

Published: April 07, 2025

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Journal: Molecular genetics & genomic medicine

Published: March 17, 2025

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Last Updated: 09/26/2026