List of works - Caroline Nava

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

scientific article published on 30 November 2018

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

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

scientific article published on 09 June 2021

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

List of works by Caroline Nava

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Correction: The landscape of epilepsy-related GATOR1 variants

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Defining the phenotypic spectrum of SLC6A1 mutations

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

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

Lessons learned from 40 novel PIGA patients and a review of the literature

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

The landscape of epilepsy-related GATOR1 variants

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3