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We report on three patients presenting moderate intellectual disability, delayed language acquisition, and mild facial dysmorphia. Array-CGH studies revealed overlapping interstitial 12p13.1 microdeletions encompassing all or part of GRIN2B. GRIN2B encodes the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a heteromeric(More)
Infantile spasms syndrome (ISs) is characterized by clinical spasms with ictal electrodecrement, usually occurring before the age of 1 year and frequently associated with cognitive impairment. Etiology is widely heterogeneous, the cause remaining elusive in 40% of patients. We searched for de novo mutations in 10 probands with ISs and their parents using(More)
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many(More)
Today, sequencing is frequently carried out by Massive Parallel Sequencing (MPS) that cuts drastically sequencing time and expenses. Nevertheless, Sanger sequencing remains the main validation method to confirm the presence of variants. The analysis of MPS data involves the development of several bioinformatic tools, academic or commercial. We present here(More)
OBJECTIVE To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls. DESIGN Whole exome sequencing. SETTING University cytogenetics center. PATIENT(S) Three patients with unexplained 46,XY primary amenorrhea were included in the study. INTERVENTION(S) Potentially pathogenic variants were confirmed by Sanger sequencing, and(More)
In recent years, molecular genetics has been playing an increasing role in the diagnostic process of monogenic epilepsies. Knowing the genetic basis of one patient's epilepsy provides accurate genetic counseling and may guide therapeutic options. Genetic diagnosis of epilepsy syndromes has long been based on Sanger sequencing and search for large(More)
1M Kammoun, 1S Mougou, 2R Brahem, 3N Ghali, 1I Bel Haj Hmida, 1S Dimassi, 4N Soyah, 1H El Ghzel, 1A Saad. 1Departments of Cytogenetics and Reproductive Biology, Farhat Hached University Teaching Hospital; 2Departments of Endocrinology, Farhat Hached University Teaching Hospital; 3Department of Nephrology, Sahloul University Teaching Hospital; 4Departments(More)
OBJECTIVE To identify the gene(s) involved in the etiology of premature ovarian insufficiency in a highly consanguineous Tunisian family. DESIGN Genetic analysis of a large consanguineous family with several affected siblings. SETTING University hospital-based cytogenetics and molecular genetics laboratories. PATIENT(S) A highly consanguineous(More)
OBJECTIVES Rolandic epilepsies (REs) represent the most frequent epilepsy in childhood. Patients may experience cognitive, speech, language, reading, and behavioral issues. The genetic origin of REs has long been debated. The participation of rare copy number variations (CNVs) in the pathophysiology of various human epilepsies has been increasingly(More)
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