A novel variant in SCN1A gene associated with Dravet syndrome

Seizure. 2019 Jul:69:213-214. doi: 10.1016/j.seizure.2019.05.003. Epub 2019 May 10.

Authors

Baps Pathirana¹, D Hettiarachchi², N F Neththikumara¹, P D Ratnayake³, Vhw Dissanayake¹

Affiliations

¹ Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.
² Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka. Electronic address: [email protected].
³ Neurology Unit, Lady Ridgeway Hospital, Colombo, Sri Lanka.

PMID: 31102827
DOI: 10.1016/j.seizure.2019.05.003

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Epilepsies, Myoclonic / diagnosis
Epilepsies, Myoclonic / genetics*
Epileptic Syndromes / genetics
Female
Humans
Mutation / genetics*
NAV1.1 Voltage-Gated Sodium Channel / genetics*
Spasms, Infantile / genetics

Substances

NAV1.1 Voltage-Gated Sodium Channel
SCN1A protein, human

Supplementary concepts

CDKL5 deficiency disorder