Maryline V. Carneiro

Lyon, France

Last Updated: 09/26/2026

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Found 21 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.

Journal: Epilepsia

Published: November 26, 2024

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

Journal: European journal of medical genetics

Published: April 16, 2021

Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.

Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.

Journal: Journal of child neurology

Published: January 28, 2021

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

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

Published: May 18, 2020

Deciphering the natural history of SCA7 in children.

Deciphering the natural history of SCA7 in children.

Journal: European journal of neurology

Published: April 12, 2020

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: March 15, 2020

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Journal: European journal of medical genetics

Published: April 25, 2019

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Journal: Molecular genetics & genomic medicine

Published: January 31, 2019

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Journal: European journal of human genetics : EJHG

Published: May 30, 2018

French clinical practice guidelines for Moyamoya angiopathy.

French clinical practice guidelines for Moyamoya angiopathy.

Journal: Revue neurologique

Published: October 09, 2017

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Journal: Journal of medical genetics

Published: September 06, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026