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Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

Author(s): Marwa Kharrat, Ines Hsairi, Hajer Doukali, Nourhene Fendri-Kriaa, Hassen Kammoun, Leila Ammar-keskes, Chahnez Triki, Faiza Fakhfakh
Published in: Acta Neurologica Belgica, Issue 117/1, 2017, Page(s) 251-258, ISSN 0300-9009
DOI: 10.1007/s13760-016-0667-5

Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

Author(s): Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfakh
Published in: Journal of Child Neurology, Issue 32/8, 2017, Page(s) 694-703, ISSN 0883-0738
DOI: 10.1177/0883073817701622

A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

Author(s): Marwa Ben Jdila, Chahnez Triki, Bochra Ben Rhouma, Rihab Ben Jomaa, Abir Ben Issa, Leila Ammar-Keskes, Fatma Kamoun, Faiza Fakhfakh
Published in: International Journal of Developmental Neuroscience, Issue 72, 2019, Page(s) 22-30, ISSN 0736-5748
DOI: 10.1016/j.ijdevneu.2018.09.006

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state

Author(s): Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh
Published in: Clinica Chimica Acta, Issue 473, 2017, Page(s) 51-59, ISSN 0009-8981
DOI: 10.1016/j.cca.2017.08.001

First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome

Author(s): Marwa Kharrat, Chahnez Triki, Marwa Maalej, Sihem Ncir, Marwa Ammar, Fatma Kammoun, Faiza Fakhfakh
Published in: International Journal of Developmental Neuroscience, Issue 79, 2019, Page(s) 37-44, ISSN 0736-5748
DOI: 10.1016/j.ijdevneu.2019.10.002