Olfa Jallouli
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View article: Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia Open
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disorder (PID) caused by biallelic mutations occurring in the serine/threonine protein kinase ( ATM ) gene. The major role of nuclear ATM is the coordination of…
View article: Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy Open
Background Developmental and Epileptic Encephalopathies stand for a heterogenous group of epileptic syndromes, where the epileptic activity itself and/or the etiology contribute to cognitive and behavioral impairment. In recent decades, ge…
View article: Challenges to associate early onset epilepsy with COVID-19 autoimmune encephalitis: A case report
Challenges to associate early onset epilepsy with COVID-19 autoimmune encephalitis: A case report Open
View article: 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
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 Open
Pathogenic germline variants in the PIGT gene are associated with the “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epileps…
View article: Caregiver burden in parents of children with neurological impairement and its relation with depression
Caregiver burden in parents of children with neurological impairement and its relation with depression Open
Introduction Caregiving negatively affects the psychological and physical health of the caregivers, especially in parents of children with neurological impairement (NI).Furthermore, the behavior and demands of the patient make the caregive…
View article: 8q21.11 microdeletion syndrome: Delineation of <i>HEY1</i> as a candidate gene in neurodevelopmental and cardiac defects
8q21.11 microdeletion syndrome: Delineation of <i>HEY1</i> as a candidate gene in neurodevelopmental and cardiac defects Open
Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the on…