Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder

Chin Med J (Engl). 2018 Sep 20;131(18):2262-2264. doi: 10.4103/0366-6999.240812.

Authors

Han-Chih Hencher Lee¹, Nike Kwai-Cheung Lau¹, Chun-Wing Yeung¹, Sui-Fun Grace Ng², Kin-Cheong Eric Yau², Chloe Miu Mak¹

Affiliations

¹ Department of Pathology, Princess Margaret Hospital, Hong Kong N-3730, China.
² Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong N-3730, China.

No abstract available

Publication types

Letter

MeSH terms

Epilepsy / diagnosis*
Epilepsy / genetics*
Genomics / methods
High-Throughput Nucleotide Sequencing / methods*
Hong Kong
Hospitals
Humans
Infant, Newborn
Male
NAV1.2 Voltage-Gated Sodium Channel / genetics*

Substances

NAV1.2 Voltage-Gated Sodium Channel
SCN2A protein, human