STRENGTHENING THE SFAX UNIVERSITY EXPERTISE FOR DIAGNOSIS AND MANAGEMENT OF EPILEPTIC ENCEPHALOPATHIES

Informations projet

SEED

N° de convention de subvention: 856592

DOI 10.3030/856592

Projet clôturé

Date de signature de la CE 26 Juin 2019

Date de début 1 Octobre 2019

Date de fin 31 Janvier 2023

Financé au titre de

• Twinning of research institutions

Coût total € 799 916,25

Contribution de l’UE € 799 916,25

Coordonné par

SFAX UNIVERSITY
Tunisia

Livrables

Documents, reports (9)

Final report on dissemination and knowledge transfer generated within the project

D 53 Final report on dissemination and knowledge transfer generated within the project

Report of the Minutes of project meetings

D14 Report of the Minutes of project meetings

Clinical guidelines

D 32 Clinical guidelines

Report on the good practices of mentoring in a twinning project

D 61 Report on the good practices of mentoring in a twinning project

Peer-reviewed publications of the coordinating entity during the three years preceding the start date of the project

Introduce in the Continuous reporting tool on the Funding and Tenders portal before the end of month 2 of the project peer-reviewed publications (in the particular field of research) of the coordinating entity during the three years preceding the start date of the project.

EEG guidelines

D 33 EEG guidelines

Objectives and teaching tools of the training

D 2.1 Objectives and teaching tools of the training

A guideline for classification of sequence variants in EE Bioinformatics pipeline for NGS EE data analysis

D 41 A guideline for classification of sequence variants in EE Bioinformatics pipeline for NGS EE data analysis

Impact for ESRs of their involvement in a twinning project

D 62 Impact for ESRs of their involvement in a twinning project

Websites, patent fillings, videos etc. (3)

Communication and Dissemination Plan

The plan shall define the target groups, key messages, media channels and responsibilities. Measurable criteria of the dissemination efforts shall be selected in order to effectively evaluate each dissemination activity. Satisfaction and evaluation questionnaires after each events will be collected. The dissemination plan shall define principles to be followed by all dissemination activities in order to avoid confusion and misconceptions and to foster the quality of project communication. It will submitted in M6 and then updated on an annual basis. (M12, M24, M36)

Project Website and dissemination material

D 5.2 Project Website and dissemination material

Content of module available in e-CAMPUS

D 31 Content of module avail

Open Research Data Pilot (1)

Data management plan

D1.2 Data management plan

Other (1)

A database model

D 42 A database model

Publications

Peer reviewed articles (5)

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

Auteurs: Ikhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Chahnez Charfi Triki, Saber Masmoudi
Publié dans: Frontiers in Neurology, Numéro 9, 2023, Page(s) 14, ISSN 1664-2295
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fneur.2023.1092887

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

Auteurs: Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, and Chahnez Triki
Publié dans: Orphanet Journal of Rare Diseases, Numéro 16, 2021, Page(s) 317, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-021-01951-w

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Auteurs: Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi
Publié dans: Journal of Advanced Research, 2021, ISSN 2090-1232
Éditeur: Cairo University
DOI: 10.1016/j.jare.2021.01.005

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

Auteurs: Marwa Kharrat, Ines Hsairi, Hajer Doukali, Nourhene Fendri-Kriaa, Hassen Kammoun, Leila Ammar-keskes, Chahnez Triki, Faiza Fakhfakh
Publié dans: Acta Neurologica Belgica, Numéro 117/1, 2017, Page(s) 251-258, ISSN 0300-9009
Éditeur: Acta Medica Belgica
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

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

Non-peer reviewed articles (3)

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

Auteurs: Marwa Ben Jdila, Chahnez Triki, Bochra Ben Rhouma, Rihab Ben Jomaa, Abir Ben Issa, Leila Ammar-Keskes, Fatma Kamoun, Faiza Fakhfakh
Publié dans: International Journal of Developmental Neuroscience, Numéro 72, 2019, Page(s) 22-30, ISSN 0736-5748
Éditeur: Pergamon Press Ltd.
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

Auteurs: Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh
Publié dans: Clinica Chimica Acta, Numéro 473, 2017, Page(s) 51-59, ISSN 0009-8981
Éditeur: Elsevier BV
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

Auteurs: Marwa Kharrat, Chahnez Triki, Marwa Maalej, Sihem Ncir, Marwa Ammar, Fatma Kammoun, Faiza Fakhfakh
Publié dans: International Journal of Developmental Neuroscience, Numéro 79, 2019, Page(s) 37-44, ISSN 0736-5748
Éditeur: Pergamon Press Ltd.
DOI: 10.1016/j.ijdevneu.2019.10.002