Centre Médical les Jonquilles, Tunis , Tunisia
NAME: Ilhem BEN YOUSSEF-TURKI, Female, Maried, 3 childrens
RESEARCH GATE: researchgate.net/profile/Ilhem_Turki2
ORCID iD: https://orcid.org/0000-0002-4994-9925 - H-index: 10 (Scopus)- Publications: 70 (Scopus)- Citations: 378 (RG)
POSITION & TITLE:
- 1989: Recruitment as a neurology specialist in the adult neurology department of the National Institute of Neurology of Tunis
- 1989-2003: Clinical activity involving care, clinical research, supervision and teaching in the adult neurology department of the Mongi Ben Hmida National Institute of Neurology in Tunis, Tunisia.
- 1994-2004: Head of the Neurophysiological and Neuromuscular Exploration Unit, Adult Neurology Department – Mongi Ben Hmida National Institute of Neurology – Tunis (INN).
- 2004-2012: Head of the Neurophysiological Exploration Unit (EEG-ENMG-EP) – Pediatric Neurology Department, INN.
- 2012-2023: Head of the department of pediatric neurology- National Institute Mongi Ben Hmida of Neurology- Tunis- Tunisia (NINT)
- 2014: PU-PH- -Professor in Neurology- Faculty of medicine- Tunis- University Tunis El Manar (UTM)-Tunisia
- 2018-2025: Chief of Research Laboratory (LR18SP04) of Child Neurology Diseases
- July 2025: Private practice physician - Neurology - Pediatric Neurology
ENGLISH LEVEL Intermediate (Read, Spoken, written)
ACADEMIC QUALIFICATIONS DEGREE YEAR FIELD OF STUDY/ SPECIFIC SKILLS:
1986: doctorate in medicine, faculty of medicine of Tunis, UTM. Tittle: Duchenne Myopathy: Clinical and Morphological study about 77 cases
1998: teacher in neurology in faculty of medicine of Tunis, UTM.
2008: associate professor in neurology.
2012 -2023: head of the department of Pediatric Neurology, NINT.
2012- 2019: Member of the National expert committee for the eradication of poliomyelitis.
2012- 2025 : Member of the national committee of experts on immunizations
2013-2025: Coordinator of project school at hospital in NINT.
2015: professor in neurology
2013-2018: Chief of Research Unit 12SP24, NINT.
2018-2025: Chief of the Research Laboratory LR18SP04, NINT
PROFESSIONAL EXPERIENCE: Competence and long experience in neurophysiology (Child and Adult): EEG, ENMG, PE - Child Neurology option: Neurometabolic disorders, Hereditary ataxia, Neuromuscular disorders, Epilepsy and child neuroinflamatory diseases
ACTIVITY AND EXPERIENCE IN NEUROMUSCULAR DISEASES
1- Skills and experience in pediatric neurophysiology for 40 years
2- Participation in LGMD research led by Professor Mongi Ben Hmida
3- Teaching neuromuscular pathologies at Tunis El Manar University for decades
4- Supervision of several research projects on neuromuscular diseases
5- Participation in the development of neuromuscular diseases in Africa through the COPMAN Project and African multidisciplinary team meetings
6- Member of the WMS Africa and the Middle East Regional Network
COLLECTIVE RESPONSABILITIES:
National activities:
1989- to date: member of Tunisian association of Neurology (ATL)
2013-2023: board of administration council at NINT.
2013-2023: board of medical committee of NINT.
2014- 2020: Vice President of the Tunisian Association of Child and Adolescent Neurology.
2013- 2018: General Secretary of Tunisian parental Association of Child and Adolescent with epilepsy ETAFFAOEL.
2018- to date: Member of the Tunisian parental Association of Child and Adolescent with epilepsy ETAFFAOEL.
2018- 2025: Membre of the National commission for Drugs in Neurology and Neuropediatrics.
2018- 2025: Member of the absenteeism management committee at NINT.
2018- to date: Founder President of the study and management committee for drug-resistant epilepsies at NINT.
2019- to date: president of the National expert committee for the eradication of poliomyelitis.
2019- 2025: Member of the creation committee of the website of NINT.
2020-2023: President elected of the Tunisian Child Neurology Association (TCNA): tcna.org
International activities:
1992- 2010: : Member of th French-speaking ENMG group member
2010- to date: Member of French-speaking ENMG association member
2010- to date: Member of the European Society of Pediatric Neurology (SENP)
2012- to date: Member of the French League against Epilepsy (LFCE)
2012- to date: Member of ICNA- ACNA
2013- to date: member of the Pediatric Multiple Sclerosis Study Group (PMSSG)
2020- to date: Member of Europeen Pediatric Neurology Society (EPNS)
2023- 2025: Member of the board of ACNA
CLINICAL RESEARCH EXPERIENCE:
• 2009-2012: NATIONAL STUDY: CLINICAL STUDY: FEDERATED RESEARCH PROJECT (PRF) on National Scholar Learning : 2005-2010- My Position: Clinical Investigator.
•2018: collaborative networks with Pasteur Institute of Tunis (Sonia ABDELHAK, Rym KEFI) and Mitochondrial Medicine Research Center (LENAERBS, Guy) to characterize the clinical and genetic aspects of Leigh syndrome in Tunisia.
•PTR_Rejuvenage 2018_2019: study of mitochondrial dysfunction in Cockayne syndrome (model of early cell aging which involve oxidative stress and mitochondria), with the Pasteur Institute of Tunis Network (Houda YACOUB, Tunis and Paris via PHP Strasbourg).
• Clinical Trail experience- 2006: International Therapeutic Trial: Gaucher Disease N°:
GZGD02507: 2006- My Position: Clinical investigator
•2014: One of the research projects, led by Said Galai (LR18SP04 Research coordinator) is the biochemical approach for the diagnosis of mitochondrial metabolic abnormalities (redox point assay: lactate / pyruvate and acetoacetate / 3 hydroxybutyrate and enzymatic assay of mitochondrial respiratory complexes) in mitochondrial cytopathies. This project is the subject of research master’s thesis and science thesis. The goal of this project is to set up biochemical tests for mitochondrial diseases in our laboratory. My position: Encadrement and support as chief of the Laboratory.
•2015 (OG): International Therapeutic Trail on ataxia Telangiectasia: IEDAT- Study IEDAT-02-2015_TU2_SIV 16-17 Jul 2019: My Position: Co- investigator
•2020 -2025: Project Tunisia- Maroco 20 / PRD-18: Clinical, Biochemical and Molecular INVESTIGATIONS OF MITOCHONDRIAL CYTOPATHIES IN CHILDREN. MY POSITION : PRINCIPAL INVESTIGATOR (PI)
•2020-2022 : Projet Retrotope : Natural History of INAD
•Projet Mobidoc post doc : 2017-2020 : Neuro-dégénérescence et maladies du vieillissement : mécanismes et stratégies thérapeutiques
•Projet Mobidoc post doc : 2020-2023 : Implication du stress oxydatif dans l’évolution des pathologies neurologiques de l'enfant : Focus sur les cytopathies mitochondriales
•Projet PHC – Utique : 2021-2024 : ETUDE MULTIDISCIPLINAIRE DES CYTOPATHIES MITOCHONDRIALES "MITORARE"
•Projet CP : 2023-2024 : Development of a Multicenter Cerebral Palsy Registry in Arabic Speaking Countries: A Feasibility Study Protocol
•Projet PRF : 2023-2026 : DINS Socio-GENOMICS: Investigations Socio-Génomiques des Déficiences Intellectuelles Non Syndromiques dans la Population Tunisienne
•Projet Mobidoc : 2024- 2026 : Développement d’un test de diagnostic non invasif et identification de biomarqueurs à potentiel thérapeutique pour les dystrophies musculaires utilisant les cellules souches dérivées des urines
•Tunisian-Turkish project : 204-2026 : Genomics and Neuronal Exosomes characterisation in autosomal recessive cerebellar ataxia: unveiling mechanisms for therapeutic insights - GENEX-ARCA
AWARDS:
• 2016: award of the Société Française d’ENMG , Strasbourg.
• 2016: award in 11th Maghreb Congress of Neurology, Algeria.
• 2017: award in the 15th Congress of the Pan Arab Union of Neurological Societies- 1st meeting of the African Academy of Neurology, Tunisia. • 2018: award in 16th Pan Arab Union of Neurological Societies (PAUNS) Meeting, Amman-Jordan.
INVITED SPEAKER :
•2016 : French ENMG society
•2018: 16th Pan Arab Union of Neurological Societies (PAUNS) Meeting- 19-22 September 2018- Amman-Jordan.
•2000- to date: Different National congress in Tunisia (Neurology- Pediatric Neurology- Pediatric Psychiatric….).
•2021: 8th Moroccan Congress of Pediatric Neurology- Rabat- 3-5 December 2021
SELECTED PEER-REVIEWED PUBLICATIONS:
1) Epilepsy aspects and EEG patterns in Neuro-metabolic Diseases. Turki I, Kraoua I, Kechaou M, Smirani S, BenRhouma H, Rouissi A, Gouider-Khouja N. Journal of Behavioral and Brain Science. 2011 ; 1 : 69-74.
2) 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I, Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N. Neuropediatrics. 2013 ; 44(5) :281-5
3) Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N. Eur J Neurol. 2015 Jan ;22(1) :178-86
4) Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration. Kraoua I, Romani M, Tonduti D, BenRhouma H, Zorzi G, Zibordi F, Ardissone A, Gouider-Khouja N, Ben Youssef-Turki I, Nardocci N, Valente EM. Eur J Neurol. 2016 Apr ;23(4) : e24-5.
5) Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. Kraoua I, Karkar A, Drissi C, Benrhouma H, Klaa H, Samaan S, Renaldo F, Elmaleh M, Ben Hamouda M, Abdelhak S, Boespflug-Tanguy O, Ben Youssef-Turki I, Dorboz I. Mol Genet Genomic Med. 2019 Sep;7(9):e914.
6) Farber disease: A Fatal Childhood Disorder with Nervous System Involvement. Ichraf Kraoua,
Thouraya Ben Younes, Virginie Garcia, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Thierry Levade, Ilhem Ben Youssef-Turki. J Rare Dis Res Treat. (2020) 5(3): 1-4
7) Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients. Nasrallah F, HadjTaieb S, Chehida AB, Jelassi A, Ben Massoued S, Charfi M, Zidi W, Amri F, Helel KB, Mejaoual H, Seboui H,
Mahdhaoui N, Gargouri A, Monastiri K, Turki I, Cheour M, Sanhaji H, Tebib N, Feki M, Kaabachi N.
Neuropediatrics. 2020 Oct;51(5):349-353
8) Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe
Form of Cockayne Syndrome B. Khouloud Zayoud, Ichraf Kraoua, Asma Chikhaoui, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Clément Crochemore, Dorra Najjar, Sinda Zarrouk, Najoua Miladi, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef. 2021 Nov 29;12(12):1922.
9) Hypomyelination and Congenital Cataract:Clinical, lmaging, and Genetic Findings in
ThreeTunisian Families and Literature Review. lchraf Kraoua, Yosra Bouyacoub, Cyrine Drissi', Mariem
Chargui, lbtihel Rebai,Ahmed Chebil, Hédia Klaa, Hanene Benrhouma, Aida Hassen, Neziha GouiderKhouja,Sonia Abdelhak, odile Boespflug-Tanguy, llhem Ben Youssef-Turki, lmen Dorboz.Neuropediatrics 2021 ;00:1-7
10) Heterogeneous clinical features in Cockayne syndrome-A patients and siblings carrying the same mutations.Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud
Zayoud, Benjamin Montagne, Ridha M’rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki & Houda Yacoub-Youssef Orphanet Journal of Rare Diseases volume 17, Orphanet J Rare Dis. 2022; 17: 121. 11) Neuronal ceroïdlipofuscinosis: Clinical, electroencephalographic,imaging, and genetic study of a maghrebian series. Thouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, Hedia Klaa, Hanene Benrhouma, Aida Rouissi, Catherine Caillaud, Myriam Chaabouni, Najoua Miladi, Soumeya Bekri, Ilhem Ben YoussefTurki. Clin Genet. 2022 Aug;102(2):157-160.
12) Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment. Meriem Hechmi, Majida Charif, Ichraf Kraoua, Meriem Fassatoui, Hamza Dallali, Valerie Desquiret-Dumas, Céline Bris, David Goudenège, Cyrine Drissi, Saïd Galaï, Slah Ouerhani ,
Vincent Procaccio, Patrizia Amati-Bonneau, Sonia Abdelhak, Ilhem Ben Youssef-Turki, Guy Lenaers, Rym Kefi. Biosci Rep. 2022 Sep 30;42(9)
13) MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early onset mitochondriopathy. Claire Pujol, Elise Lebigot, Pauline Gaignard, Said Galai, Ichraf Kraoua, Jean-Philippe Bault, Rodolphe Dard, Ilhem Ben Youssef-Turki, Souheil Omar, Audrey Boutron, Timothy Wai, Abdelhamid Slama. Brain. 2023 Mar 1; 146(3):858-864.
14) Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
Ismail Gouiza Ismail Gouiza1,2,3,4, Meriem Hechmi 2,3, Abir Zioudi3, 4,5, Hamza Dallali2,3, Nadia
Kheriji2,3,4, Majida Charif6, Morgane Le Mao1, Said Galai4,7, Lilia Kraoua3,8, Ilhem Ben YoussefTurki3,4,5, Ichraf Kraoua3,4,5, GuyLenaers1,9, Rym Kefi2,3, Front. Genet. , 12 January 2024, Sec. Genetics of Common and Rare Diseases, Volume 14 - 2023 | https://doi.org/10.3389/fgene.2023.1259826 15) Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome, Wiem Manoubi 1,2, Marwa Mahdouani 3,4, Dorra Hmida 5, Ameni Kdissa 6, Aida Rouissi 7,
Ilhem Turki 8, Neji Gueddiche 9, Najla Soyah 10, Ali Saad 11, Christian Bouwkamp 12, Ype Elgersma 13, Soumaya Mougou-Zerelli 14, Moez Gribaa 15, World J Clin Cases. 2024 Jan 26;12(3):503–516. doi:
10.12998/wjcc.v12.i3.503
16) Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging
Khouloud Zayoud 1 2, Asma Chikhaoui 1, Ichraf Kraoua 3, Anis Tebourbi 4, Dorra Najjar 1, Saker Ayari 4, Ines Safra 5, Imen Kraiem 5, Ilhem Turki 3, Samia Menif 5, Houda Yacoub-Youssef 1, Cells. 2024 Feb 26;13(5):402. doi: 10.3390/cells13050402.
17) Reticulum 2 deficiency Results in an autosomal recessive distal motor neuropathy with lower limb sopasticity : Reza Maroofian 1, Payam Sarraf 2 3, Thomas J O'Brien 4 5, Mona Kamel 6, Arman Cakar 1 7, Nour Elkhateeb 8, Tracy Lau 1, Siddaramappa Jagdish Patil 9, Christopher J Record 1, Alejandro Horga 1, Miriam Essid 10, Laila Selim 6, Hanene Benrhouma 10, Thouraya Ben Younes 10, Giovanni Zifarelli 11, Alistair T Pagnamenta 12, Peter Bauer 11, Mukhran Khundadze 13, Andrea Mirecki 13, Sara Mahmoud
Kamel 14, Mohamed A Elmonem 15, Ehsan Ghayoor Karimiani 16 17, Yalda Jamshidi 16, Amaka C Offiah 18, Alexander M Rossor 1, Ilhem Ben Youssef-Turki 10, Christian A Hübner 13 19, Pinki Munot 20, Mary M Reilly 1, André E X Brown 4 5, Sara Nagy 1 21, Henry Houlden 1, Brain. 2024 Mar 25: awae091. doi: 10.1093/brain/awae091.
18) Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: Paving the way for precision auditory health : Rahma Mkaouar1*, Zied Riahi1, Jihene Marrakchi2, Nessrine Mezzi1, 3, Lilia Romdhane1, 3, Maroua Boujemaa1, Hamza Dallali1, 4, Marwa Sayeb1, Saida Lahbib1, Hajer Jaouadi1, Hela Boudabbous5, 6, Lotfi Zekri1, 7, Mariem Chargui1, Olfa Messaoud1, Meriem Elyounsi8, 6, Ichraf Kraoua9, 10, Anissa Zaouak11, Ilhem BEN YOUSSEF TURKI9, 10, Mourad Mokni12, Sophie Boucher13, Christine PETIT14, 15, Fabrice GIRAUDET16, Chiraz Mbarek17, Ghazi Besbes18, Soumeyya Halayem1, 19, Rim Zainine18, Hamida Turki20, Amel Tounsi2, Crystel Bonnet14, Ridha Mrad8, 6, Sonia Abdelhak1, Mediha Trabelsi8, 6, Cherine Charfeddine1, Front. Genet. , 22 April 2024, Sec. Genetics of Common and Rare Diseases, Volume 15 - 2024 | https://doi.org/10.3389/fgene.2024.1384094
19) Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity Rim Jennia, Hedia Klaab, Oussema Khamessic,d, Asma Chikhaouia, Dorra Najjara, Kais Ghedirac, Ichraf Kraouab, Ilhem Turkib, Houda Yacoub-Youssefa,
International Journal of Biological Macromolecules 278 (2024) 134444
20) Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families. Kraoua I, Jamoussi M, Drissi C, Kraoua L, Drunat S, Benrhouma H, Ben Younes T, Nagi S, Abdelhak S, Boespflug Tanguy O, Youssef-Turki IB, Trabelsi M, Dorboz I.
Mol Genet Genomic Med. 2024 Oct;12(10):e70007. doi: 10.1002/mgg3.70007. PMID: 39436788 21) Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses. Asma Chikhaoui 1, Kouloud Zayoud 1, Ichraf Kraoua 2, Sami Bouchoucha 3, Anis Tebourbi 4, Ilhem Turki 2, Houda Yacoub-Youssef 1, Aging (Albany NY). 2024 Nov 26;16(21):13271-13287. doi: 10.18632/aging.206160. Epub 2024 Nov 26.
Monographies :
1. Les Leucodystrophies sans marqueurs biochimiques. Ichraf Kraoua, Thouraya Ben Younes, Ilhem Ben Youssef Turki. Éditions Universitaires Européennes – année 2021. ISBN : 978-602-3-4-1886-6.
2. Épilepsie dans les maladies NeuroMétaboliques. Hedia Klaa, Ichraf Kraoua, Ilhem Turki. Éditions Universitaires Européennes – année 2018. ISBN : 978-3-639-54331-5.
3. Langage et Troubles Neurologiques. Ichraf Kraoua, Aida Rouissi, Ilhem Ben Youssef Turki. Chapitre du Livre : Le Langage en question sous la direction du Pr. Ahlem Belhaj – Tunisie 2020 - p209. Édition : Centre de Publication Universitaire. ISBN : 978-9938-46-036-0