Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting

Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis.Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger sequencing of the Voltage-Gated Sodium Channel Alpha Subunit 1 (SCN1A) gene was conducted in all patients. In SCN1A-negative patients, multiplex ligation-dependent probe amplification of the SCN1A gene was performed in all cases; however, direct sequencing of the Protocadherin-19 (PCDH19) gene was analyzed in girls only.Results: Fourteen (70.0%) DS patients were found to carry pathogenic SCN1A mutations, with 6 novel mutations. In SCN1A-negative patients; 1 of the 4 girl patients (25.0%) had a novel PCDH19 mutation, while none of the 6 patients had a large deletion or duplication in the SCN1A gene.Conclusion: The SCN1A gene is the most common causative mutation in Thai children with DS phenotype. This study emphasizes the benefit of Sanger sequencing of the SCN1A gene in resource-limited countries to aid in making appropriate therapeutic decisions.

WHAT IS NEW IN DRAVET SYNDROME?

The pathology of Dravet syndrome is of particular importance in children. In this article we analyze the involvement of the SCN1A gene in Dravet syndrome, we approach the new treatment strategies in Dravet syndrome.

Successful utilisation of epidural analgesia for perioperative pain management in a child with sodium voltage-gated channel alpha subunit (SCN1A) gene mutation

Sodium voltage-gated channel alpha subunit (SCN1A) gene mutation is a rare disorder with a large spectrum of clinical presentations. Little is known regarding anaesthetic and analgesic management of these patients. We present a case of a child with SCN1A gene mutation that was successfully managed with an epidural for perioperative analgesia for an abdominal surgery.