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First report of Tunisian patients with CDKL5‐related encephalopathy

Epilepsia open, 2024-06, Vol.9 (3), p.906-917

2024

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Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Journal of human genetics, 2014-04, Vol.59 (4), p.216-222

2014

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Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region

Frontiers in neurology, 2023-03, Vol.14, p.1092887

2023

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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy

Epilepsia open, 2024-10, Vol.9 (5), p.1697-1709

2024

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Acute Demyelinating Syndromes: A report of child neurology department of Sfax University Hospital

Multiple sclerosis and related disorders, 2021-11, Vol.56, p.103291-103291, Article 103291

2021

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Brain Tuberculomas as BCGitis Complication Presenting with Epileptic Spasms: A Case Report

Journal of pediatric neurology, 2020-04, Vol.18 (2), p.114-117

2020

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Lessons learned from COVID-19 impact of pandemic on children with neurological disorders in Sfax, Tunisia

International journal of public health science, 2023-03, Vol.12 (1), p.239

2023

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MRI features in 17 patients with l2 hydroxyglutaric aciduria

European journal of radiology Open, 2016-01, Vol.3, p.245-250

2016

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What is the interest of the electroencephalogram in the syndromic diagnosis?

Tunisie Medicale, 2018-08, Vol.96 (8-9), p.528-531

2018

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Clinical and genetic aspect of 30 tunisian families with febrile seizures

Tunisie Medicale, 2019-04, Vol.97 (4), p.525-532

2019

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A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

Annals of human genetics, 2013-07, Vol.77 (4), p.336-343

2013

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Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability

International journal of developmental neuroscience, 2024-02, Vol.84 (1), p.35-46

2024

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Mutations dans le gène FOXG1 chez deux patients atteints du syndrome de Rett congénital : étude génétique et analyse in Silico

Revue neurologique, 2022-04, Vol.178, p.S47-S48

2022

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Mitochondrial leucoencephalopathies: An under-diagnosed form of mitochondrial disease

Journal of the neurological sciences, 2021-10, Vol.429, p.119364, Article 119364

2021

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Peripheral neuropathy due to mitochondrial disorders in pediatric patients

Journal of the neurological sciences, 2021-10, Vol.429, p.119365, Article 119365

2021

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A novel TBX1 missense mutation in patients with syndromic congenital heart defects

Biochemical and biophysical research communications, 2018-05, Vol.499 (3), p.563-569

2018

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Les conductions nerveuses motrices et sensitives des membres inférieurs chez l’enfant : valeurs normales

Revue neurologique, 2021-04, Vol.177, p.S58-S59

2021

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Opsoclonus myoclonus induced by lamotrigine toxicity

Seizure (London, England), 2021-10, Vol.91, p.247-250

2021

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Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies

Journal of human genetics, 2024-07, Vol.69 (7), p.291-299

2024

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A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity

Journal of molecular neuroscience, 2023-10, Vol.73 (9-10), p.853-864

2023

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Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome

Neurosciences (Riyadh, Saudi Arabia), 2012-01, Vol.17 (1), p.74-77

2012

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Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case

Journal of clinical neuromuscular disease, 2023-09, Vol.25 (1), p.46-50

2023

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Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein

Journal of molecular neuroscience, 2022-08, Vol.72 (8), p.1695-1705

2022

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Les hypersomnies de l’enfant : particularités cliniques et thérapeutiques

Revue neurologique, 2022-04, Vol.178, p.S57-S57

2022

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Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia

Epilepsy & behavior, 2021-09, Vol.122, p.108151-108151, Article 108151

2021

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First report of Tunisian patients with CDKL5‐related encephalopathy

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy

Acute Demyelinating Syndromes: A report of child neurology department of Sfax University Hospital

Brain Tuberculomas as BCGitis Complication Presenting with Epileptic Spasms: A Case Report

Lessons learned from COVID-19 impact of pandemic on children with neurological disorders in Sfax, Tunisia

MRI features in 17 patients with l2 hydroxyglutaric aciduria

What is the interest of the electroencephalogram in the syndromic diagnosis?

Clinical and genetic aspect of 30 tunisian families with febrile seizures

A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability

Mutations dans le gène FOXG1 chez deux patients atteints du syndrome de Rett congénital : étude génétique et analyse in Silico

Mitochondrial leucoencephalopathies: An under-diagnosed form of mitochondrial disease

Peripheral neuropathy due to mitochondrial disorders in pediatric patients

A novel TBX1 missense mutation in patients with syndromic congenital heart defects

Les conductions nerveuses motrices et sensitives des membres inférieurs chez l’enfant : valeurs normales

Opsoclonus myoclonus induced by lamotrigine toxicity

Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies

A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity

Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome

Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case

Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein

Les hypersomnies de l’enfant : particularités cliniques et thérapeutiques

Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia

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