Melanie M. Jennesson

Reims, France

Last Updated: 09/26/2026

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Found 15 publications

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Journal: American journal of human genetics

Published: November 17, 2023

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Journal: Journal of medical genetics

Published: February 09, 2023

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Journal: Epilepsy & behavior : E&B

Published: September 05, 2021

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

Journal: Clinical genetics

Published: May 07, 2021

Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.

Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.

Journal: Annals of neurology

Published: March 13, 2021

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Journal: Epilepsia

Published: June 05, 2020

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Journal: Human mutation

Published: April 15, 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Correction: The landscape of epilepsy-related GATOR1 variants.

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

Published: September 29, 2018

Correction to: The landscape of epilepsy-related GATOR1 variants.

Correction to: The landscape of epilepsy-related GATOR1 variants.

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

Published: August 31, 2018

The landscape of epilepsy-related GATOR1 variants.

The landscape of epilepsy-related GATOR1 variants.

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

Published: February 01, 2018

Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).

Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).

Journal: Epilepsy & behavior : E&B

Published: January 14, 2016

Brain and spinal manifestations of Miller-Dieker syndrome.

Brain and spinal manifestations of Miller-Dieker syndrome.

Journal: Neurology. Clinical practice

Published: May 02, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026