Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations

Seizure. 2019 Feb:65:62-64. doi: 10.1016/j.seizure.2019.01.002. Epub 2019 Jan 2.

Authors

Carlotta Spagnoli¹, Daniele Frattini², Susanna Rizzi², Grazia Gabriella Salerno², Carlo Fusco³

Affiliations

¹ Department of Pediatrics, Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy. Electronic address: carlotta.spagnoli@ausl.re.it.
² Department of Pediatrics, Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
³ Department of Pediatrics, Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Pediatric Neurophysiology Laboratory, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

PMID: 30612077
DOI: 10.1016/j.seizure.2019.01.002

No abstract available

Keywords: Dravet syndrome; Early infantile epileptic encephalopathy; Movement disorder; Refractory epilepsy; SCN1A.

Publication types

Case Reports
Letter

MeSH terms

Child
Electroencephalography
Genetic Association Studies
Humans
Male
NAV1.1 Voltage-Gated Sodium Channel / genetics*
Spasms, Infantile / genetics*
Spasms, Infantile / physiopathology*

Substances

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

Supplementary concepts

Infantile Epileptic-Dyskinetic Encephalopathy