1. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019) Authors: Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. Issue 11 (29th August 2019) Authors: Darras, Natasha; Ha, Thoa K.; Rego, Shannon; Martin, Pierre‐Marie; Barroso, Eva; Slavotinek, Anne M.; Cilio, Maria R. Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNM1 encephalopathy: A new disease of vesicle fission. (25th July 2017) Authors: von Spiczak, Sarah; Helbig, Katherine L.; Shinde, Deepali N.; Huether, Robert; Pendziwiat, Manuela; Lourenço, Charles; Nunes, Mark E.; Sarco, Dean P.; Kaplan, Richard A.; Dlugos, Dennis J.; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R.; Cervenka, Mackenzie C.; Cohen, Julie S.; McClellan, Rebec... Journal: Neurology Issue: Volume 89:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants. (December 2020) Authors: Malerba, Federica; Alberini, Giulio; Balagura, Ganna; Marchese, Francesca; Amadori, Elisabetta; Riva, Antonella; Vari, Maria Stella; Gennaro, Elena; Madia, Francesca; Salpietro, Vincenzo; Angriman, Marco; Giordano, Lucio; Accorsi, Patrizia; Trivisano, Marina; Specchio, Nicola; Russo, Angelo; Gobb... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗