Search

Author/Creator Piirsoo, Andres

1. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Issue 8 (2nd June 2016)

Authors:
Reinson, Karit; Õiglane‐Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
2173
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders. (December 2014)

Authors:
Vaher, Ulvi; Nõukas, Margit; Nikopensius, Tiit; Kals, Mart; Annilo, Tarmo; Nelis, Mari; Õunap, Katrin; Reimand, Tiia; Talvik, Inga; Ilves, Pilvi; Piirsoo, Andres; Seppet, Enn; Metspalu, Andres; Talvik, Tiina
Journal:
Journal of child neurology
Issue:
Volume 29:Number 12(2014:Dec.)
Page Start:
NP202
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗