Challenges in genetic testing for metabolic causes of developmental epileptic encephalopathy- relevance of genotype-phenotype correlations

Seizure. 2024 Apr:117:307-308. doi: 10.1016/j.seizure.2024.02.012. Epub 2024 Feb 20.

Affiliations

¹ Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, Kerala, India.
² Human Molecular Genetics Laboratory, Rajiv Gandhi Centre for Biotechnology, Trivandrum, Kerala, India.
³ Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, Kerala, India. Electronic address: [email protected].

PMID: 38402011
DOI: 10.1016/j.seizure.2024.02.012

No abstract available

Keywords: DEE; Inborn errors of metabolism; Next generation sequencing; Test yield.

Publication types

Editorial
Letter

MeSH terms

Epilepsy / diagnosis
Epilepsy / genetics
Genetic Association Studies
Genetic Testing*
Humans
Spasms, Infantile / genetics