Rima Nabbout

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

Short-term nonhormonal and nonsteroid treatment in West syndrome.

Epileptic encephalopathies: a brief overview.

Monogenic idiopathic epilepsies.

Fever, genes, and epilepsy.

Epilepsy in Menkes disease: analysis of clinical stages.

Evaluation of CACNA1H in European patients with childhood absence epilepsy.

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

Exploration of the genetic architecture of idiopathic generalized epilepsies.

Linkage and association analysis of CACNG3 in childhood absence epilepsy.

Genetics of epilepsy: epilepsy research foundation workshop report.

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.

Early seizures: causal events or predisposition to adult epilepsy?

Parental view of epilepsy in Rett Syndrome.

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

The management of infantile spasms.

Can SCN1A mutations account for SUDEP?--Commentary on Hindocha et al.

The three stages of epilepsy in patients with CDKL5 mutations.

Epileptic syndromes in infancy and childhood.

An unexpected EEG course in Dravet syndrome.

A novel locus for generalized epilepsy with febrile seizures plus in French families.

A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+.

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

The ketogenic diet improves recently worsened focal epilepsy.

Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity.

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

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

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES).

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Acute encephalopathy with inflammation-mediated status epilepticus.

Topiramate pharmacokinetics in infants and young children: contribution of population analysis.

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

The genetics of Dravet syndrome.

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study.

Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children.

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

Epilepsy. Genetics of early-onset epilepsy with encephalopathy.

Epilepsy: MRI follow-up in paediatric convulsive status epilepticus.

Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations.

Stiripentol: an example of antiepileptic drug development in childhood epilepsies.

Autoimmune and inflammatory epilepsies.

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

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

Do mutations in SCN1B cause Dravet syndrome?

A revisited strategy for antiepileptic drug development in children: designing an initial exploratory step.

Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.

[Epidemicology des epilepsies].

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Experimental designs for small randomised clinical trials: an algorithm for choice.

Genetics of idiopathic epilepsies.

Regulation of ClC-2 gating by intracellular ATP.

Use of dietary therapy for status epilepticus.

Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome.

Children often present with infantile spasms after herpetic encephalitis.

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children.

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Transition and transfer from pediatric to adult health care in epilepsy: a families' survey on Dravet syndrome.

FIRES and IHHE: Delineation of the syndromes.

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

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

Genetic heterogeneity in malignant migrating partial seizures of infancy.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

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

Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Current role of rufinamide in the treatment of childhood epilepsy: Literature review and treatment guidelines.

Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.

Transition in adulthood: the challenge of epilepsies.

Transition: driving and exercise.

Bringing the transition of epilepsy care from children to adults out of the shadows.