Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
- Creator: Seiffert, Simone , Pendziwiat, Manuela , Hedrich, Ulrike Barbara Stefanie , Helbig, Ingo , Weber, Yvonne , Bierhals, Tatjana , Goel, Himanshu , Schwarz, Niklas , van der Ven, Amelie , Boßelmann, Christian Malte , Lemke, Johannes , Syrbe, Steffen , Willemsen, Marjolein Hanna
- Resource Type: journal article
- Date: 2022
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
- Creator: Carvill, Gemma L. , McMahon, Jacinta M. , Mecarelli, Oriano , Smith, Robert L. , Leventer, Richard J. , Møller, Rikke S. , Nikanorova, Marina , Dimova, Petia , Jordanova, Albena , Petrou, Steven , Helbig, Ingo , Striano, Pasquale , Schneider, Amy , Zemel, Matthew , Myers, Candace T. , Saykally, Julia , Nguyen, John , Robbiano, Angela , Zara, Frederico , Specchio, Nicola
- Resource Type: journal article
- Date: 2015