Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

Conclusion: PCDH19 is a major causative gene in patients with epilepsy and further data is required to gain a better understanding of phenotype-genotype correlation. In addition to gene sequencing, deletion/duplication analysis will improve the molecular diagnosis in patients with clinical findings.
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research