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Page 1
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Oliver KL, Trivisano M, Mandelstam SA, De Dominicis A, Francis DI, Green TE, Muir AM, Chowdhary A, Hertzberg C, Goldhahn K, Metreau J, Prager C, Pinner J, Cardamone M, Myers KA, Leventer RJ, Lesca G, Bahlo M, Hildebrand MS, Mefford HC, Kaindl AM, Specchio N, Scheffer IE. Oliver KL, et al. Among authors: hertzberg c. Epilepsia. 2023 May;64(5):1351-1367. doi: 10.1111/epi.17542. Epub 2023 Mar 11. Epilepsia. 2023. PMID: 36779245 Free PMC article.
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Nabbout R, et al. Among authors: hertzberg c. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
De Ridder J, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; EPISTOP consortium. De Ridder J, et al. Among authors: hertzberg c. Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29. Epilepsia. 2021. PMID: 33778971 Clinical Trial.
Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
Kühne F, Becker LL, Bast T, Bertsche A, Borggraefe I, Boßelmann CM, Fahrbach J, Hertzberg C, Herz NA, Hirsch M, Holtkamp M, Janello C, Kluger GJ, Kurlemann G, Lerche H, Makridis KL, von Podewils F, Pringsheim M, Schubert-Bast S, Schulz J, Schulze-Bonhage A, Steinbart D, Steinhoff BJ, Strzelczyk A, Syrbe S, De Vries H, Wagner C, Wagner J, Wilken B, Prager C, Klotz KA, Kaindl AM. Kühne F, et al. Among authors: hertzberg c. Epilepsia Open. 2023 Jun;8(2):360-370. doi: 10.1002/epi4.12699. Epub 2023 Feb 6. Epilepsia Open. 2023. PMID: 36693811 Free PMC article.
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Kingswood JC. Nabbout R, et al. Among authors: hertzberg c. Front Neurol. 2021 Sep 8;12:697467. doi: 10.3389/fneur.2021.697467. eCollection 2021. Front Neurol. 2021. PMID: 34566842 Free PMC article.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members; Kwiatkowski DJ. Ogórek B, et al. Among authors: hertzberg c. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. Genet Med. 2020. PMID: 32461669 Free article.
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Moavero R, Kotulska K, Lagae L, Benvenuto A, Emberti Gialloreti L, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Van Schooneveld MM, Samueli S, Maulisovà A, Aronica E, Kwiatkowski DJ, Jansen FE, Jozwiak S, Curatolo P; EPISTOP Consortium. Moavero R, et al. Among authors: hertzberg c. Ann Clin Transl Neurol. 2020 Aug;7(8):1371-1381. doi: 10.1002/acn3.51128. Epub 2020 Jul 23. Ann Clin Transl Neurol. 2020. PMID: 32705817 Free PMC article. Clinical Trial.
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics.
De Ridder J, Lavanga M, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Van Huffel S, Lagae L. De Ridder J, et al. Among authors: hertzberg c. Front Neurol. 2020 Oct 16;11:582891. doi: 10.3389/fneur.2020.582891. eCollection 2020. Front Neurol. 2020. PMID: 33178126 Free PMC article.
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E. Spielmann M, et al. Among authors: hertzberg c. Eur J Med Genet. 2011 Jul-Aug;54(4):e441-5. doi: 10.1016/j.ejmg.2011.04.004. Epub 2011 Apr 29. Eur J Med Genet. 2011. PMID: 21596161
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: hertzberg c. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
61 results