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Cécilia Altuzarra | Researchclopedia

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Cécilia Altuzarra

Centre Hospitalier Universitaire de Besançon

30

Works

1,347

Citations

17

h-index

20

i10-index

Research Topics

Epilepsy research and treatment Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Affiliations

Hôpital Necker-Enfants Malades2009–2009

University of Luxembourg2019–2019

Centre Hospitalier Universitaire de Besançon2010–2025

Observatoire de Besançon2010–2010

Hertie Institute for Clinical Brain Research2019–2019

Top Works

Corticosteroids as treatment of epileptic syndromes with continuous spike‐waves during slow‐wave sleep

Marga Buzatu,Christine Bulteau,et al.

2009166 citations

Ion channel regulation and function

Metabolism and Genetic Disorders

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen,Yuanyuan Liu,et al.

2021141 citations

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Caroline Michot,Laurence Hubert,et al.

2010131 citations

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

Frédérique Audic,Marta Gómez García de la Banda,et al.

2020100 citations

Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

Vanessa Vedrenne,Gowher Ali,et al.

201298 citations

<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Claudia Bonardi,Henrike Heyne,et al.

202196 citations

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Mathieu Milh,Nadia Boutry‐Kryza,et al.

201391 citations

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Affef Abidi,Jérôme Devaux,et al.

201573 citations

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

Marie Le Roux,Magalie Barth,et al.

202165 citations