Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants

• Published in: Journal of child neurology 2021-09, Vol.36 (10), p.875-882
• Main Authors: Tascón-Arcila, José, Rojas-Jiménez, Sara, Cornejo-Sánchez, Diana, Gómez-Builes, Paola, Ucroz-Benavides, Andrea, Holguín, Blear-Maria, Restrepo-Arbeláez, Daniel, Gómez-Castillo, Christhian, Solarte-Mia, Rodrigo, Cornejo-Ochoa, William, Pineda-Trujillo, Nicolas
• Format: Article
• Language: English
• Subjects: Adolescent; Antigens, Nuclear - genetics; Child; Child, Preschool; Cohort Studies; Colombia; Electroencephalography - methods; Epilepsy, Rolandic - genetics; Epilepsy, Rolandic - physiopathology; Female; Humans; Male; Nerve Tissue Proteins - genetics; Receptors, N-Methyl-D-Aspartate - genetics; RNA Splicing Factors - genetics
• ISSN: 0883-0738; 1708-8283
• DOI: 10.1177/08830738211015017

Purpose: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. Methods: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. Results: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. Conclusions: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.