title: [Detection of subtelomeric rearrangements due to MLPA in paediatric patients with refractory epilepsy in Colombia: the role of the CHL1 gene in pharmacoresistance].
abstract: INTRODUCTION. Epilepsy is a neurological disorder characterised by a predisposition to the recurrence of seizures of distinct causation and with variable clinical manifestations. Up to 40% of patients do not manage to control their seizures with the first anticonvulsive drug and the addition of a second pharmaceutical affords control in only another 11%. Given the aetiological heterogeneity of pharmacoresistance, it has been suggested that the presence of genomic disorders in patients with refractoriness could be elements worthy of analysis when it comes to estimating the alteration in the pharmacokinetic or pharmacodynamic profiles of these patients. AIM. To detect the presence of subtelomeric rearrangements in Colombian paediatric patients with refractory epilepsy. PATIENTS AND METHODS. The multiplex ligation-dependent probe amplification (MLPA) technique was used to evaluate the presence of cytogenetically non-visible chromosome aberrations in subtelomeric regions of 113 patients diagnosed with refractory epilepsy from three national referral centres in Colombia. RESULTS. Subtelomeric chromosome aberrations were detected in 0.9% of patients corresponding to a duplication of locus 3p26.3 in gene CHL1. CONCLUSIONS. This study suggests the use of the MLPA methodology to detect subtelomeric rearrangements that may be associated with phenotypes of refractoriness in epileptic patients.
authors.affiliation: Universidad Nacional de Colombia, Bogota DC, Colombia.
authors.forename: Silvia J
authors.initials: SJ
authors.lastname: Maradei-Anaya
authors.forename: Eugenia
authors.initials: E
authors.lastname: Espinosa
authors.forename: Álvaro
authors.initials: Á
authors.lastname: Izquierdo
authors.forename: Harvy M
authors.initials: HM
authors.lastname: Velasco-Parra
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000494:pharmacology* / Q000627:therapeutic use; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003105:Colombia / Q000453:epidemiology; D003241:Consanguinity; D004351:Drug Resistance / Q000235:genetics*; D004827:Epilepsy / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009419:Nerve Tissue Proteins / Q000378:metabolism; D025941:Protein Interaction Mapping; D017434:Protein Structure, Tertiary; D050600:SNARE Proteins / Q000378:metabolism; D009435:Synaptic Transmission
chemical_list: D000927:Anticonvulsants; C490650:CHL1 protein, human; D015815:Cell Adhesion Molecules; D009419:Nerve Tissue Proteins; D050600:SNARE Proteins