Alfonso Represa

Marseille, France

Last Updated: 09/26/2026

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Found 34 publications

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

Uncovering the molecular logic of cortical wiring between neuronal subtypes across development through ligand-receptor inference.

Uncovering the molecular logic of cortical wiring between neuronal subtypes across development through ligand-receptor inference.

Journal: Nature communications

Published: May 09, 2025

Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly.

Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly.

Journal: Epilepsia

Published: October 25, 2024

Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors.

Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors.

Journal: Epilepsia

Published: January 25, 2024

FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex.

FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex.

Journal: Neurobiology of disease

Published: July 12, 2023

Grey matter heterotopia subtypes show specific morpho-electric signatures and network dynamics.

Grey matter heterotopia subtypes show specific morpho-electric signatures and network dynamics.

Journal: Brain : a journal of neurology

Published: June 27, 2023

Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats.

Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats.

Journal: Neurobiology of disease

Published: October 10, 2022

Editorial: What does human pathology bring to the understanding of the fundamental mechanisms of development?

Editorial: What does human pathology bring to the understanding of the fundamental mechanisms of development?

Journal: Frontiers in neuroanatomy

Published: July 26, 2022

Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation.

Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation.

Journal: Journal of neuropathology and experimental neurology

Published: July 05, 2022

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Journal: American journal of human genetics

Published: May 31, 2022

Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Journal: Molecular psychiatry

Published: July 20, 2021

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Journal: Molecular psychiatry

Published: August 20, 2020

Showing 1-12 of 34

Last Updated: 09/26/2026