Although most neonatal seizures reflect acute brain dysfunction secondary to hypoxia-ischemia or stroke, they can represent the presenting sign of epilepsy. Neonatal epilepsies are rare and need appropriate work-up and management.
The electro-clinical phenotype at presentation is largely unknown, and most infants remain unrecognized and undiagnosed until later in life, missing the opportunity of early and effective treatment. Our group focuses on the characterization of the neonatal phenotype of rare genetic epilepsies to enable early recognition and individualized treatment.
Team members
- Maria Roberta Cilio, MD, PhD – PI
- Evelina Carapancea, MD, PhD student
- Monica Reis Da Silva, R. EEG T.
- Claudia Denoue, Medical Student
Collaborations
- Maurizio Taglialatela’s Lab for the functional studies of genetic variants, Federico II University, Naples, Italy
- Tristan T. Sands’s Lab - The END (Epilepsy & Neurodevelopmental Disease) Lab, Columbia University, New York, NY, USA
- Marie-Coralie Cornet, MD, PhD – Newborn Brain Research Institute, University of California San Francisco, CA, USA
- INNESCO (ItaliaN Neonatal Seizure Collaborative) group
- Yves Sznajer, MD, PhD, IREC (lien)
- Damien Lederer, Institute of Genetics and Pathology, Gosselies, Belgium
- Neonatal Seizure Registry study group, USA
Ongoing Projects
- KCNQ2/3 epilepsies and epileptic encephalopathies: biomarkers ,electroclinical phenotypes, and treatment response
- Treatment response in neonates with acute provoked seizures due to arterial ischemic stroke
- Treatment response in neonates with acute provoked seizures du to HIE
Key publications
- Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Clinical and Neurophysiologic Phenotypes in Neonates with BRAT1 Encephalopathy. Neurology. 2023 Mar 21;100(12): e1234-e1247
- Cornet MC, Morabito V, Lederer D, Glass HC, Ferrao Santos S, Numis AL, Ferriero DM, Sands TT, Cilio MR. Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures. Epilepsia. 2021 Aug;62(8):1907-1920. doi: 10.1111/epi.16957. Epub 2021 Jun 21. PMID: 34153113
- Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia. 2021 Mar;62(3):615-628. doi: 10.1111/epi.16815. Epub 2021 Feb 1
- Wusthoff CJ, Sundaram V, Abend NS, Massey SL, Lemmon ME, Thomas C, McCulloch CE, Chang T, Soul JS, Chu CJ, Rogers EE, Bonifacio SL, Cilio MR, Glass HC, Shellhaas RA; Neonatal Seizure Registry Group. Seizure Control in Neonates Undergoing Screening vs Confirmatory EEG Monitoring. Neurology. 2021 Aug 10;97(6):e587-e596. doi: 10.1212/WNL.0000000000012293. Epub 2021 Jun 2. PMID: 34078719
- Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Autism and developmental disability caused by KCNQ3 gain-of-function variants. Ann Neurol. 2019 Aug;86(2):181-192.