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

Informacje na temat projektu

SEED

Identyfikator umowy o grant: 856592

DOI

10.3030/856592

Projekt został zamknięty

Data podpisania przez KE 26 Czerwca 2019

Data rozpoczęcia 1 Października 2019

Data zakończenia 31 Stycznia 2023

Finansowanie w ramach

• Twinning of research institutions

Koszt całkowity

€ 799 916,25

Wkład UE

€ 799 916,25

Koordynowany przez

SFAX UNIVERSITY
Tunisia

CORDIS oferuje możliwość skorzystania z odnośników do publicznie dostępnych publikacji i rezultatów projektów realizowanych w ramach programów ramowych HORYZONT.

Odnośniki do rezultatów i publikacji związanych z poszczególnymi projektami 7PR, a także odnośniki do niektórych konkretnych kategorii wyników, takich jak zbiory danych i oprogramowanie, są dynamicznie pobierane z systemu OpenAIRE .

Rezultaty

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

Publikacje

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

Autorzy: 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
Opublikowane w: Frontiers in Neurology, Numer 9, 2023, Strona(/y) 14, ISSN 1664-2295
Wydawca: 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

Autorzy: Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, and Chahnez Triki
Opublikowane w: Orphanet Journal of Rare Diseases, Numer 16, 2021, Strona(/y) 317, ISSN 1750-1172
Wydawca: 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

Autorzy: 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
Opublikowane w: Journal of Advanced Research, 2021, ISSN 2090-1232
Wydawca: 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

Autorzy: Marwa Kharrat, Ines Hsairi, Hajer Doukali, Nourhene Fendri-Kriaa, Hassen Kammoun, Leila Ammar-keskes, Chahnez Triki, Faiza Fakhfakh
Opublikowane w: Acta Neurologica Belgica, Numer 117/1, 2017, Strona(/y) 251-258, ISSN 0300-9009
Wydawca: 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

Autorzy: Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfakh
Opublikowane w: Journal of Child Neurology, Numer 32/8, 2017, Strona(/y) 694-703, ISSN 0883-0738
Wydawca: 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

Autorzy: Marwa Ben Jdila, Chahnez Triki, Bochra Ben Rhouma, Rihab Ben Jomaa, Abir Ben Issa, Leila Ammar-Keskes, Fatma Kamoun, Faiza Fakhfakh
Opublikowane w: International Journal of Developmental Neuroscience, Numer 72, 2019, Strona(/y) 22-30, ISSN 0736-5748
Wydawca: 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

Autorzy: Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh
Opublikowane w: Clinica Chimica Acta, Numer 473, 2017, Strona(/y) 51-59, ISSN 0009-8981
Wydawca: 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

Autorzy: Marwa Kharrat, Chahnez Triki, Marwa Maalej, Sihem Ncir, Marwa Ammar, Fatma Kammoun, Faiza Fakhfakh
Opublikowane w: International Journal of Developmental Neuroscience, Numer 79, 2019, Strona(/y) 37-44, ISSN 0736-5748
Wydawca: Pergamon Press Ltd.
DOI: 10.1016/j.ijdevneu.2019.10.002