Pediatric Neurology Group

• Marie-Cécile Nassogne
• Maria-Roberta Cilio
• Stéphanie Paquay
• Roberto Santalucia
• Bouchra El M’Kaddem
• Marine Houssa, Research Officer, CAP48 Project Coordinator

• Guido Bommer & Joseph P. Dewulf. Signalling & Metabolism. Institut de Duve
   
• Anne Wintgens, Institut de recherche santé et société

Epilepsy is a major research topic.

• Pr R Cilio's research focuses on neonatal epilepsy.
• Dr Roberto Santalucia works under the supervision of Pr Riëm El Tahry on "Optimizing care in refractory childhood epilepsy".

This group has also a special interest in inborn errors of metabolism.

• The Inborn errors of Metabolism Multidisciplinary Reference Centre aims to welcome patients suffering from any of the several hundreds of congenital metabolic disorders. This group works in close collaboration with the neonatal screening center headed by Pr Joseph P Dewulf.
• Dr Stéphanie Paquay works under the supervision of Pr Guido Bommer on the Role of ACAD10 and ACAD11 in the metabolism of hydroxylated fatty acids.
• Two specific projects are developed:
  • The molecular mechanisms of intellectual disability of undetermined etiology: collaboration with Pr Nicole Revencu (link), Pr Guido Bommer (link), Pr E van Schaftingen and Pr Joseph Dewulf (link).
  • The diagnosis of rare diseases: close collaboration with Pr Joseph Dewulf (link): Collection of minimally invasive human body material to identify biomarkers by metabolomics screening to improve diagnosis and screening of rare diseases. (BUSARD: Blood spot and Urine metabolomics Screening Applied to Rare Diseases). NCT06360913.

Another topic concerns autism spectrum disorders in children,

with the CAP48 medical research project: https://www.cap48.be/projets-specifiques-finances/recherche-medicale/autisme/. In close collaboration with Pr Anne Wintgens.

• Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study. Everard E, Laeremans H, Boemer F, Marie S, Vincent MF, Dewulf JP, Debray FG, De Laet C, Nassogne MC. Eur J Paediatr Neurol. 2024 Mar;49:60-65. doi: 10.1016/j.ejpn.2024.02.003.
   
• Neurological presentations of inborn errors of purine and pyrimidine metabolism. Nassogne MC, Marie S, Dewulf JP. Eur J Paediatr Neurol. 2024 Jan;48:69-77. doi: 10.1016/j.ejpn.2023.11.013.
   
• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rube… Nature. 2024 Jul 11. doi: 10.1038/s41586-024-07773-7.
   
• Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. Grünert SC, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, Corpeleijn W, Çıki K, Cotter M, Crushell E, Derks TGJ, Haas D, Kilavuz S, Kingma SDK, Korman SH, Kozek A, de Laet C, Mundy H, Nassogne MC, Quintero V, Rossi A, Spenger J, Spiegel R, Stephenne X, Stojkov D, Tal G, Veiga-da Cunha M, Wortmann SB. Mol Genet Metab. 2024 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486.
   
• Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Brain. 2024 Jun 3;147(6):1967-1974. doi: 10.1093/brain/awae057.
   
• Clinical added value of interictal automated electrical source imaging in the presurgical evaluation of MRI-negative epilepsy: A real-life experience in 29 consecutive patients. Santalucia R, Carapancea E, Vespa S, Germany Morrison E, Ghasemi Baroumand A, Vrielynck P, Fierain A, Joris V, Raftopoulos C, Duprez T, Ferrao Santos S, van Mierlo P, El Tahry R. Epilepsy Behav. 2023 Jun;143:109229. doi: 10.1016/j.yebeh.2023.109229.
   
• Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy. Santalucia R, Vilain C, Soblet J, De Laet C, Vuckovic A, König J, Aeby A. Ann Clin Transl Neurol. 2022 Jul;9(7):1095-1099. doi: 10.1002/acn3.51581. Epub 2022 May 28. PMID: 35633140
   
• Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010.