Ana V. Hernandez-Marco

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 16 publications

Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Journal: Pediatric dermatology

Published: April 13, 2025

A microRNA signature for valproate-induced steatosis in human hepatocytes and its application to predict fatty liver in paediatric epileptic patients on valproate therapy.

A microRNA signature for valproate-induced steatosis in human hepatocytes and its application to predict fatty liver in paediatric epileptic patients on valproate therapy.

Journal: Toxicology

Published: September 10, 2024

New variants expand the neurological phenotype of COQ7 deficiency.

New variants expand the neurological phenotype of COQ7 deficiency.

Journal: Journal of inherited metabolic disease

Published: March 30, 2024

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Journal: International journal of molecular sciences

Published: September 14, 2023

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Journal: International journal of molecular sciences

Published: February 20, 2023

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Journal: Journal of child neurology

Published: January 24, 2022

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Journal: Frontiers in neurology

Published: September 28, 2021

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Journal: Clinical genetics

Published: September 15, 2021

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.

Journal: Frontiers in neurology

Published: April 27, 2021

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Journal: American journal of medical genetics. Part A

Published: March 26, 2021

Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital.

Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital.

Journal: Andes pediatrica : revista Chilena de pediatria

Published: September 30, 2020

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Journal: Journal of pediatric genetics

Published: June 15, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026