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

Informazioni relative al progetto

SEED

ID dell’accordo di sovvenzione: 856592

DOI 10.3030/856592

Progetto chiuso

Data della firma CE 26 Giugno 2019

Data di avvio 1 Ottobre 2019

Data di completamento 31 Gennaio 2023

Finanziato da

• Twinning of research institutions

Costo totale € 799 916,25

Contributo UE € 799 916,25

Coordinato da

SFAX UNIVERSITY
Tunisia

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Risultati finali

Documenti, relazioni (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

Siti web, brevetti, video ecc. (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

Altro (1)

A database model

D 42 A database model

Pubblicazioni

Articoli sottoposti a revisione paritaria (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

Autori: 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
Pubblicato in: Frontiers in Neurology, Numero 9, 2023, Pagina/e 14, ISSN 1664-2295
Editore: 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

Autori: Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, and Chahnez Triki
Pubblicato in: Orphanet Journal of Rare Diseases, Numero 16, 2021, Pagina/e 317, ISSN 1750-1172
Editore: 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

Autori: 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
Pubblicato in: Journal of Advanced Research, 2021, ISSN 2090-1232
Editore: 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

Autori: Marwa Kharrat, Ines Hsairi, Hajer Doukali, Nourhene Fendri-Kriaa, Hassen Kammoun, Leila Ammar-keskes, Chahnez Triki, Faiza Fakhfakh
Pubblicato in: Acta Neurologica Belgica, Numero 117/1, 2017, Pagina/e 251-258, ISSN 0300-9009
Editore: 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

Autori: Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfakh
Pubblicato in: Journal of Child Neurology, Numero 32/8, 2017, Pagina/e 694-703, ISSN 0883-0738
Editore: SAGE Publications
DOI: 10.1177/0883073817701622

Articoli non rivisti tra pari (3)

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

Autori: Marwa Ben Jdila, Chahnez Triki, Bochra Ben Rhouma, Rihab Ben Jomaa, Abir Ben Issa, Leila Ammar-Keskes, Fatma Kamoun, Faiza Fakhfakh
Pubblicato in: International Journal of Developmental Neuroscience, Numero 72, 2019, Pagina/e 22-30, ISSN 0736-5748
Editore: 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

Autori: Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh
Pubblicato in: Clinica Chimica Acta, Numero 473, 2017, Pagina/e 51-59, ISSN 0009-8981
Editore: 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

Autori: Marwa Kharrat, Chahnez Triki, Marwa Maalej, Sihem Ncir, Marwa Ammar, Fatma Kammoun, Faiza Fakhfakh
Pubblicato in: International Journal of Developmental Neuroscience, Numero 79, 2019, Pagina/e 37-44, ISSN 0736-5748
Editore: Pergamon Press Ltd.
DOI: 10.1016/j.ijdevneu.2019.10.002