Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Giulia Barcia | Researchclopedia

Back to researchers

Giulia Barcia

Hôpital Necker-Enfants Malades ORCID

154

Works

3,439

Citations

32

h-index

65

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Mitochondrial Function and Pathology

Affiliations

Délégation Paris 52012–2022

Hôpital Necker-Enfants Malades2012–2026

Hudson Institute2019–2019

Université de Pau et des Pays de l'Adour2025–2026

Inserm2012–2026

Top Works

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia,Matthew R. Fleming,et al.

2012521 citations

Epilepsy research and treatment

Metabolism and Genetic Disorders

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin,Grace Kim,et al.

2014256 citations

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Rima Nabbout,Nicole Chémaly,et al.

2013193 citations

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang,Jiqiang Ling,et al.

2014136 citations

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

Grace Kim,Jack Kronengold,et al.

2014128 citations

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders

Antonia Parmeggiani,Giulia Barcia,et al.

2010125 citations

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin,Karine Siquier-Pernet,et al.

2018105 citations

Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

Pierre‐Yves Maillard,Sarah Baer,et al.

202274 citations

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

Lisa Ouss,Dorothée Leunen,et al.

201866 citations