Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing
Abstract
BACKGROUND: Migraine and epilepsy are distinct neurological disorders that co-occur as comorbid conditions as well. Despite their clinical differences, these disorders exhibit some overlapping symptoms and share underlying pathophysiological mechanisms driven by a common genetic contribution. AIM: The current study aimed to explore the genetic predisposition associated with epilepsy, migraine, and their comorbidity in both familial and sporadic cases. METHODS: Whole exome sequencing carried out in 191 individuals, comprising familial and sporadic cases diagnosed with migraine (n = 63), epilepsy (n = 62), and comorbid (n = 39) involving unaffected first-degree relatives (n = 16) and healthy controls (n = 11). Variant interpretation was performed in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Segregation analysis was carried out by Sanger sequencing. RESULTS: Clinically relevant pathogenic and likely pathogenic variants were observed in the genes associated with ion channel functioning and neurotransmitter regulation in migraine as well as in epilepsy. Apart from these, variations in other genes regulating glucose transport, synaptic organization and signaling were also identified. In the epilepsy group, variants were detected in sodium channel genes (SCN1A, SCN1B, SCN2A), G protein-coupled receptor (ADGRV1), GLUT-1, and GABA transporters (SLC2A1, SLC6A1), synaptic transporter (STXBP1), and others (ICK, EFHC1, SETD1B, and DEPDC5).…
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