Browsing Universitätsbibliographie by Author "Lauxmann, Stephan"

Now showing items 1-13 of 13

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy

Hedrich, Ulrike B. S.; Lauxmann, Stephan; Wolff, Markus; Synofzik, Matthis; Bast, Thomas; Binelli, Adrian; Serratosa, Jose M.; Martinez-Ulloa, Pedro; Allen, Nicholas M.; King, Mary D.; Gorman, Kathleen M.; Ben Zeev, Bruria; Tzadok, Michal; Wong-Kisiel, Lily; Marjanovic, Dragan; Rubboli, Guido; Sisodiya, Sanjay M.; Lutz, Florian; Ashraf, Harshad Pannikkaveettil; Torge, Kirsten; Yan, Pu; Bosselmann, Christian; Schwarz, Niklas; Fudali, Monika; Lerche, Holger (2021)
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current

Lauxmann, Stephan; Boutry-Kryza, Nadia; Rivier, Clotilde; Mueller, Stephan; Hedrich, Ulrike B. S.; Maljevic, Snezana; Szepetowski, Pierre; Lerche, Holger; Lesca, Gaetan (2013)
Ein erhöhter "Subschwellen"-Natrium-Strom als neuer Mechanismus einer familiären Epilepsie mit einer SCN2A Mutation

Lauxmann, Stephan (2016)
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders

Kegele, Josua; Krueger, Johanna; Koko, Mahmoud; Lange, Lara; Marco Hernandez, Ana Victoria; Martinez, Francisco; Muenchau, Alexander; Lerche, Holger; Lauxmann, Stephan (2021)
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L.; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Bruenger, Tobias; Thomas, Rhys H.; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis; Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Goldstein, David B.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Lerche, Holger; Goldstein, David B.; Lowenstein, Daniel H.; Berkovic, Samuel F.; Lerche, Holger; Goldstein, David B.; Lowenstein, Daniel H.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leech, Stephanie L.; Leu, Costin; Lewis-Smith, David; Berkovic, Samuel F.; Scheffer, Ingrid E.; Regan, Brigid M.; Bennett, Caitlin A.; Leech, Stephanie L.; O'Brien, Terence J.; Petrovski, Slave; Todaro, Marian; Kwan, Patrick; Weckhuysen, Sarah; De Jonghe, Peter; Stamberger, Hannah; Depondti, Chantal; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Yiolanda, Christou; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin (2023)
In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders

Bayraktar, Erva; Liu, Yuanyuan; Sonnenberg, Lukas; Hedrich, Ulrike B. S.; Sara, Yildirim; Eltokhi, Ahmed; Lyu, Hang; Lerche, Holger; Wuttke, Thomas V.; Lauxmann, Stephan (2023)
Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type

Koch, Nils A.; Sonnenberg, Lukas; Hedrich, Ulrike B. S.; Lauxmann, Stephan; Benda, Jan (2023)
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Liu, Yuanyuan; Schubert, Julian; Sonnenberg, Lukas; Helbig, Katherine L.; Hoei-Hansen, Christina E.; Koko, Mahmoud; Rannap, Maert; Lauxmann, Stephan; Huq, Mahbubul; Schneider, Michael C.; Johannesen, Katrine M.; Kurlemann, Gerhard; Gardella, Elena; Becker, Felicitas; Weber, Yvonne G.; Benda, Jan; Moller, Rikke S.; Lerche, Holger (2019)
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Heyne, Henrike O.; Baez-Nieto, David; Iqbal, Sumaiya; Palmer, Duncan S.; Brunklaus, Andreas; May, Patrick; Johannesen, Katrine M.; Lauxmann, Stephan; Lemke, Johannes R.; Moller, Rikke S.; Perez-Palma, Eduardo; Scholl, Ute, I; Syrbe, Steffen; Lerche, Holger; Lal, Dennis; Campbell, Arthur J.; Wang, Hao-Ran; Pan, Jen; Daly, Mark J. (2020)
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies

Lauxmann, Stephan; Verbeek, Nienke E.; Liu, Yuanyuan; Zaichuk, Mariana; Mueller, Stephan; Lemke, Johannes R.; van Kempen, Marjan J. A.; Lerche, Holger; Hedrich, Ulrike B. S. (2018)
SCN2A channelopathies: Mechanisms and models

Hedrich, Ulrike B. S.; Lauxmann, Stephan; Lerche, Holger (2019)
Thalamic transitory ischemic attacks presenting as Jacksonian sensory march

Schubert, Victoria; Lauxmann, Stephan; Bender, Benjamin; Lerche, Holger (2017)
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature

Lauxmann, Stephan; Sonnenberg, Lukas; Koch, Nils A.; Bosselmann, Christian; Winter, Natalie; Schwarz, Niklas; Wuttke, Thomas, V; Hedrich, Ulrike B. S.; Liu, Yuanyuan; Lerche, Holger; Benda, Jan; Kegele, Josua (2021)

Now showing items 1-13 of 13

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