List of works - Rima Nabbout

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy

scientific article published on 01 July 2020

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

scientific article published on 01 August 2019

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

scientific article

Do mutations in SCN1B cause Dravet syndrome?

scientific article

Dravet syndrome: Treatment options and management of prolonged seizures

scientific article published on 01 December 2019

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome

scientific article published on 03 May 2019

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability

scientific article published on 25 October 2019

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

scientific article published on 04 October 2019

Exploration of the genetic architecture of idiopathic generalized epilepsies.

scientific article published in October 2006

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy

scientific article published on 25 January 2019

Genetics of epilepsy: epilepsy research foundation workshop report

scientific article published in June 2007

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

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

scientific article published on 12 September 2018

Impact of predictive, preventive and precision medicine strategies in epilepsy

scientific article published on 19 October 2020

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

scientific article published on 23 July 2020

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

scientific article

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

scientific article published on 04 March 2019

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

scientific article published on 12 March 2009

The genetics of Dravet syndrome.

scientific article published on April 2011

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome

scientific article published on 14 July 2020

List of works by Rima Nabbout

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy

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

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

Do mutations in SCN1B cause Dravet syndrome?

Dravet syndrome: Treatment options and management of prolonged seizures

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability

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

Exploration of the genetic architecture of idiopathic generalized epilepsies.

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy

Genetics of epilepsy: epilepsy research foundation workshop report

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

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

Impact of predictive, preventive and precision medicine strategies in epilepsy

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

The genetics of Dravet syndrome.

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome