Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia

Mov Disord Clin Pract. 2018 Mar 30;5(3):330-332. doi: 10.1002/mdc3.12610. eCollection 2018 May-Jun.

Authors

Clécio de Oliveira Godeiro Junior¹, Thiago Cardoso Vale², Cintia Oliveira de Melo Afonso¹, Fernando Kok^{3

4}, José Luiz Pedroso⁵, Orlando G Barsottini⁵

Affiliations

¹ Department of Neurology Universidade Federal do Rio Grande do Norte Natal RN Brazil.
² Department of Internal Medicine Universidade Federal de Juiz de Fora Juiz de Fora MG Brazil.
³ Neurogenetics Unit, Department of Neurology University of São Paulo School of Medicine Sao Paulo SP Brazil.
⁴ Mendelics Genomic Analysis Sao Paulo SP Brazil.
⁵ Department of Neurology Universidade Federal de São Paulo Sao Paulo SP Brazil.

No abstract available

Keywords: Ataxia; Epilepsy; Myoclonus; Progressive myoclonic epilepsy.

Publication types

Case Reports