Cecilia D. Altuzarra

Besancon, France

Last Updated: 09/26/2026

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Found 18 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

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

Journal: European journal of neurology

Published: April 22, 2025

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

Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study.

Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 24, 2024

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Journal: Orphanet journal of rare diseases

Published: May 09, 2023

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

Journal: Neurogenetics

Published: May 10, 2021

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Journal: Brain : a journal of neurology

Published: March 12, 2021

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 18, 2021

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Journal: Brain : a journal of neurology

Published: March 21, 2020

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Journal: Orphanet journal of rare diseases

Published: October 04, 2019

Functional classification of ATM variants in ataxia-telangiectasia patients.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Journal: Human mutation

Published: September 07, 2018

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Journal: Epilepsia

Published: April 13, 2018

Showing 1-12 of 18

Last Updated: 09/26/2026