Publications by authors named "Hinde El Mouhi"

Dravet syndrome is a severe form of epilepsy characterised by recurrent seizures and cognitive impairment. It is mainly caused by variant in the SCN1A gene in 90% of cases, which codes for the α subunit of the voltage-gated sodium channel. In this study, we present one suspected case of Dravet syndrome in Moroccan child that underwent exome analysis and were confirmed by Sanger sequencing.

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Autosomal dominant intellectual development disorder-6 (MRD6) arises from a gene mutation, inducing neurodevelopmental issues. The effects of MRD6 encompass cognitive disabilities, seizures, muscle tone decline, and autism-like traits. Its severity ranges from mild impairment to severe epilepsy.

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Acute myeloid leukemia (AML) is a heterogeneous and aggressive form of blood cancer characterized by the uncontrolled proliferation of myeloid precursor cells in the bone marrow. It affects individuals of all ages, with incidence increasing notably in those over 65 years old. Despite advancements in treatment, overall survival rates remain unsatisfactory, underscoring the need for a deeper understanding of the disease.

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Article Synopsis
  • - Schuurs-Hoeijmakers syndrome is a rare neurodevelopmental genetic disorder causing intellectual disability, found in about 1-3% of cases globally, and most documented cases involve a specific mutation (c.607 C > T; p.R203W).
  • - A unique case in Morocco involves a 12-year-old girl with PACS1 syndrome, caused by a new mutation in the PACS1 gene impacting cellular transport, which leads to developmental delays and other physical anomalies.
  • - Genetic testing confirmed the mutation's pathogenicity, emphasizing the disorder's genetic diversity and suggesting a link to craniofacial and neurodevelopmental issues, potentially influencing studies on autism spectrum disorders.
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This case report focuses on a 33-year-old male patient with a history of infertility, characterized by severe micro-oligo-asthenospermia. Subsequent analysis revealed the presence of multi-headed and multi-flagellated spermatozoa, indicating a potential case of macrocephalic spermatozoa syndrome linked to a mutation in the gene. Genetic testing confirmed the presence of a pathogenic mutation, c.

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