Search Results - "Turki Ben Youssef, Ilhem"

ABCB1 Polymorphisms and Drug-Resistant Epilepsy in a Tunisian Population by Hila, Lamia, Ben Youssef Turki, Ilhem, Klaa, Hedia, Chouchi, Malek

“…Background. Epilepsy is one of the most common neurological disorders with about 30% treatment failure rate. An interindividual variations in efficacy of…”
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Postencephalitic parkinsonism and selective involvement of substantia nigra in childhood by Rebai, Ibtihel, Ben Rhouma, Hanene, Kraoua, Ichraf, Klaa, Hedia, Rouissi, Aida, Ben Youssef-Turki, Ilhem, Gouider-Khouja, Neziha

“…Abstract Parkinsonism is a rare complication of encephalitis in childhood. Association to an isolated involvement of substantia nigra is exceptional…”
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Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis by Chouchi, Malek, Kaabachi, Wajih, Klaa, Hedia, Tizaoui, Kalthoum, Turki, Ilhem Ben-Youssef, Hila, Lamia

“…Antiepileptic drugs (AEDs) are effective medications available for epilepsy. However, many patients do not respond to this treatment and become resistant…”
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Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series by Ben Younes, Thouraya, Kraoua, Ichraf, Snanoudj, Sarah, Klaa, Hedia, Benrhouma, Hanene, Rouissi, Aida, Caillaud, Catherine, Chaabouni, Myriam, Miladi, Najoua, Bekri, Soumeya, Ben Youssef‐Turki, Ilhem

“…Our study included 13 patients diagnosed with neuronal ceroidlipofuscinosis. It is a group of rare genetically‐determined neurodegenerativediseases…”
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment by Mkaouar, Rahma, Riahi, Zied, Charfeddine, Cherine, Chelly, Imen, Boudabbous, Hela, Dallali, Hamza, Bonnet, Crystel, Hechmi, Meriem, Bekri, Soumeya, Zitouna, Nadia, Zekri, Lotfi, Tounsi, Amel, Kefi, Rym, Marrakchi, Jihene, Messaoud, Olfa, Kraoua, Ichraf, Maalej, Sonia, Turki Ben Youssef, Ilhem, Ben Hmid, Ahlem, Giraudet, Fabrice, Bouchoucha, Sami, Tebib, Neji, Besbes, Ghazi, Petit, Christine, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha

“…Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical…”
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Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families by Kraoua, Ichraf, Jamoussi, Maha, Drissi, Cyrine, Kraoua, Lilia, Drunat, Séverine, Benrhouma, Hanene, Ben Younes, Thouraya, Nagi, Sonia, Abdelhak, Sonia, Boespflug Tanguy, Odile, Youssef‐Turki, Ilhem Ben, Trabelsi, Mediha, Dorboz, Imen

“…ABSTRACT Background POLIII‐related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and…”
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Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology by Lahbib, Saida, Leblond, Claire S., Hamza, Mariem, Regnault, Béatrice, Lemée, Laure, Mathieu, Alexandre, Jaouadi, Hager, Mkaouar, Rahma, Youssef-Turki, Ilhem Ben, Belhadj, Ahlem, Kraoua, Ichraf, Bourgeron, Thomas, Abdelhak, Sonia

“…Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually…”
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Childhood opsoclonus–myoclonus syndrome: A case series from Tunisia by Ben Achour, Nedia, Mrabet, Saloua, Rebai, Ibtihel, Abid, Ines, Benrhouma, Hanene, Klaa, Hedia, Rouissi, Aida, Kraoua, Ichraf, Ben Youssef Turki, Ilhem

“…Opsoclonus myoclonus syndrome (OMS) is a rare immune-mediated disorder characterized by opsoclonus, myoclonus, ataxia and behavioral changes. The aim of our…”
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Rasmussen’s Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review by Ben Youssef-Turki, Ilhem, Rouissi, Aida, Nagi, Sonia, Benrhouma, Hanene, Ben Younes, Thouraya, Klaa, Hedia, Kraoua, Ichraf

“…Rasmussen’s encephalitis (RE) is a rare progressive inflammatory disease of the central nervous system. It is characterized by unilateral hemispheric atrophy,…”
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A Case of Progressive Chorea Resulting From GLUT1 Deficiency by Kraoua, Ichraf, Benrhouma, Hanene, Vuillaumier‐Barrot, Sandrine, Klaa, Hedia, Youssef‐Turki, Ilhem Ben

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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity by Maroofian, Reza, Sarraf, Payam, O'Brien, Thomas J, Kamel, Mona, Cakar, Arman, Elkhateeb, Nour, Lau, Tracy, Patil, Siddaramappa Jagdish, Record, Christopher J, Horga, Alejandro, Essid, Miriam, Selim, Laila, Benrhouma, Hanene, Ben Younes, Thouraya, Zifarelli, Giovanni, Pagnamenta, Alistair T, Bauer, Peter, Khundadze, Mukhran, Mirecki, Andrea, Kamel, Sara Mahmoud, Elmonem, Mohamed A, Ghayoor Karimiani, Ehsan, Jamshidi, Yalda, Offiah, Amaka C, Rossor, Alexander M, Youssef-Turki, Ilhem Ben, Hübner, Christian A, Munot, Pinki, Reilly, Mary M, Brown, André E X, Nagy, Sara, Houlden, Henry

“…Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia…”
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Severe dysautonomia as a main feature of anti-GAD encephalitis: Report of a paediatric case and literature review by Ben Achour, Nedia, Ben Younes, Thouraya, Rebai, Ibtihel, Ben Ahmed, Melika, Kraoua, Ichraf, Ben Youssef–Turki, Ilhem

“…Anti-glutamic acid decarboxylase (anti-GAD65) antibodies are a rare cause of autoimmune encephalitis. This entity is mainly recognized in adults and very few…”
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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria by Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A

“…DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in…”
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Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment by Hechmi, Meriem, Charif, Majida, Kraoua, Ichraf, Fassatoui, Meriem, Dallali, Hamza, Desquiret-Dumas, Valerie, Bris, Céline, Goudenège, David, Drissi, Cyrine, Galaï, Saïd, Ouerhani, Slah, Procaccio, Vincent, Amati-Bonneau, Patrizia, Abdelhak, Sonia, Ben Youssef-Turki, Ilhem, Lenaers, Guy, Kefi, Rym

“…Abstract Mitochondrial cytopathies, among which the Leigh syndrome (LS), are caused by variants either in the mitochondrial or the nuclear genome, affecting…”
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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing by Gouiza, Ismail, Hechmi, Meriem, Zioudi, Abir, Dallali, Hamza, Kheriji, Nadia, Charif, Majida, Le Mao, Morgane, Galai, Said, Kraoua, Lilia, Ben Youssef-Turki, Ilhem, Kraoua, Ichraf, Lenaers, Guy, Kefi, Rym

“…Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a…”
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Autoimmune Encephalitis in Tunisia: Report of a Pediatric Cohort by Douma, Bissene, Ben Younes, Thouraya, Benrhouma, Hanene, Miladi, Zouhour, Zamali, Imen, Rouissi, Aida, Klaa, Hedia, Kraoua, Ichraf, Ben Ahmed, Melika, Ben Youssef Turki, Ilhem

“…Background. Autoimmune encephalitis (AE) is a rapidly progressive encephalopathy caused by antibodies targeting neurons in the central nervous system…”
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Pediatric Multiple Sclerosis in Tunisia: A Retrospective Study over 11 Years by Ben Youssef Turki, Ilhem, Rouissi, Aida, Klaa, Hedia, Benrhouma, Hanene, Raddadi, Sarra, Rebai, Ibtihel, Ben Achour, Nedia, Kraoua, Ichraf

“…Introduction. Pediatric multiple sclerosis (pMS) is a rare demyelinating disorder with an onset before the age of 18 years. In this study, we aimed to…”
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Letter to the editor: “A case of Guillain-Barré syndrome with meningeal irritation” by Rebai, Ibtihel, Ben Achour, Nedia, El Mabrouk, Emna, Kraoua, Ichraf, Ben Youssef-Turki, Ilhem

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Anti-Ma2-encephalitis in a 2 year-old child: A newly diagnosed case and literature review by Mrabet, Saloua, Ben Achour, Nedia, Kraoua, Ichraf, Benrhouma, Hanène, Klaa, Hedia, Rouissi, Aida, Ben Ahmed, Malika, Ben Youssef Turki, Ilhem

“…Abstract Background Anti-Ma2-associated encephalitis is a rare paraneoplastic neurological syndrome characterized by isolated or combined limbic, diencephalic,…”
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Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia by Nasrallah, Fahmi, Hammami, Mohamed Bessem, Ben Rhouma, Hanen, Fradj, Sondes Hadj, Azzouz, Hatem, Omar, Souheil, Feki, Moncef, Ben Youssef, Ilhem Turki, Messaoud, Taieb, Tebib, Neji, Kaabachi, Naziha

“…Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a defect of fumarylacetoacetate hydrolase. This study aimed to estimate the…”
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