Dados do Trabalho

Título

CHILDHOOD EPILEPSY DUE TO ALTERATION IN THE GRIN2B GENE: A CASE REPORT.

Apresentação do caso

Case Presentation: A male patient at five months of age was taken to a pediatric neurology clinic with a presentation of delayed psychomotor development and mild muscle spasms accompanied by binocular supraversion for two months, occurring frequently at five times per day with an average duration of one minute per episode, triggered when the patient became irritated or cried. Additionally, the child presented with significant axial hypotonia, low nasal bridge, epicanthic folds, low-set ears, protuberant heels, and a gaze that did not follow or fixate on eye contact. Neurological examination demonstrated head control acquisition, tetraparesis with hypotonia, grade II symmetric reflexes, indifferent bilateral plantar cutaneous reflex, and intact cranial nerves with isocoric, photoreactive pupils and preserved extraocular motility, including occasional divergent strabismus. A cranial magnetic resonance imaging revealed no structural brain abnormalities or abnormal myelination. An electroencephalogram detected frequent interictal epileptiform activity in the left centro-parieto-temporal region with rare multifocal abnormalities, diffuse slowing of low amplitude, and asymmetry of the baseline activity. Comparative genomic hybridization array was used to identify possible chromosomal alterations causing infantile epileptic encephalopathy, showing a paternally inherited 170kb duplication in band 3p25.2 on the short arm of chromosome 3 and another in region 10q26.3, which did not fully explain the patient's phenotype. Whole-exome sequencing detected a GRIN2B gene alteration with the variant Chr 12:13,720,098 promoting the substitution of glycine for valine at codon 820 (p.Gly820Val), which was not inherited from the parents, indicating a mutational event.

Discussão

Discussion: The GRIN2B gene, located on the short arm of chromosome 12 at 12p13.1, encodes the GluN2B subunit of the N-methyl-D-aspartate receptor, generating neural excitations. Whole-exome sequencing allowed the detection of an extensive number of variants in the GRIN2B gene, which have direct implications in various neurodevelopmental disorders such as intellectual disability, autism spectrum disorder, visual impairment, and infantile epileptic encephalopathy.

Comentários finais

Final Comments: The importance of investigating genetic mutations using available tests in the field must be underscored as a possible cause of epileptic syndromes, aiming to provide therapeutic support to patients and improve their quality of life.

Referências (se houver)

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Palavras Chave

Epileptic Seizure; Encephalopathy; Databases Genetic; Mutation; Neurodevelopmental Disorders.

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