TY  - JOUR
AU  - Verdura, Edgard
AU  - Fons, Carme
AU  - Schlüter, Agatha
AU  - Ruiz, Montserrat
AU  - Fourcade, Stéphane
AU  - Casasnovas, Carlos
AU  - Castellano, Antonio
AU  - Pujol, Aurora
PY  - 2019
DO  - 10.1136/jmedgenet-2019-106373
UR  - http://hdl.handle.net/10668/14588
T2  - Journal of medical genetics
AB  - Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the voltage-gated K+ channel subunit Kv1.1. All of these mutations are either transmitted in an...
LA  - en
KW  - KCNA1
KW  - Kv1.1
KW  - WES
KW  - dyskinesia
KW  - neonatal epileptic encephalopathy
KW  - Ataxia
KW  - Channelopathies
KW  - Child
KW  - Child, Preschool
KW  - Dyskinesias
KW  - Epilepsy
KW  - Female
KW  - Gene Expression Regulation
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Kv1.1 Potassium Channel
KW  - Male
KW  - Mutation
KW  - Myokymia
KW  - Oxcarbazepine
KW  - Pedigree
KW  - Exome Sequencing
TI  - Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
TY  - research article
VL  - 57
ER  -