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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Among authors: hartlieb t. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. von Stülpnagel C, et al. Among authors: hartlieb t. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. Eur J Paediatr Neurol. 2017. PMID: 28109652
Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.
Tiefes AM, Hartlieb T, Tacke M, von Stülpnagel-Steinbeis C, Larsen LHG, Hao Q, Dahl HA, Neubauer BA, Gerstl L, Kudernatsch M, Kluger GJ, Borggraefe I. Tiefes AM, et al. Among authors: hartlieb t. Clin EEG Neurosci. 2019 Jul;50(4):267-272. doi: 10.1177/1550059418794347. Epub 2018 Aug 17. Clin EEG Neurosci. 2019. PMID: 30117335
Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.
von Stülpnagel C, Hartlieb T, Borggräfe I, Coppola A, Gennaro E, Eschermann K, Kiwull L, Kluger F, Krois I, Møller RS, Rössler F, Santulli L, Schwermer C, Wallacher-Scholz B, Zara F, Wolf P, Kluger G. von Stülpnagel C, et al. Among authors: hartlieb t. Seizure. 2019 Feb;65:131-137. doi: 10.1016/j.seizure.2018.12.020. Epub 2018 Dec 22. Seizure. 2019. PMID: 30685520 Free article. Review.
Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.
von Stülpnagel C, van Baalen A, Borggraefe I, Eschermann K, Hartlieb T, Kiwull L, Pringsheim M, Wolff M, Kudernatsch M, Wiegand G, Striano P, Kluger G; NETRE Consortium. von Stülpnagel C, et al. Among authors: hartlieb t. Front Neurol. 2021 Jan 14;11:622510. doi: 10.3389/fneur.2020.622510. eCollection 2020. Front Neurol. 2021. PMID: 33519703 Free PMC article. Review.
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