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Título

ATYPICAL ROLANDIC EPILEPSY AND LANGUAGE DELAY ASSOCIATED WITH NR4A2 AND GRIN2A

RESUMO

M.A.B, female, 4 years old, normal pregnancy and delivery, non-consanguineous parents. In the first year of life, she had motor development delay, and at 2 years old, her language was incomprehensible, and presented inappropriate social behaviors; At age 3, she started with focal seizures during sleep. Dysmorphic features were absent; Good social interaction, but impaired attention; Low expressive linguistic with predominantly gestural/verbal speech. Initiates a conversation, as it presents difficulties in understanding. The orofacial structures presented low posture, tone, mobility of the lips and cheeks; First EEG: independent projection epileptiform activity in the centrotemporal regions activated by sleep; The use of oxcarbazepine, but the attacks increased in frequency; Control EEG: frequent epileptiform activity and associated with slowing of baseline activity in the left cerebral hemisphere. MRI normal; Clobazam was associated with oxcarbazepine, with no improvement in the seizures and later levetiracetam, but the seizures continued to occur sporadically. The last seizure was 4 months ago. Genetic analysis by next-generation sequencing identified: In heterozygosity, in the NR4A2 gene, a variant promoting the substitution of the amino acid isoleucine. The NR4A2 gene encodes a transcription factor that is highly expressed in critical regions for language development and the normal formation of the dopaminergic pathway. Autosomal dominant inheritance. In heterozygosity in the GRIN2A gene, a variant that promotes the substitution of the amino acid valine for leucine; The treatment was modified, for a gradual withdrawal of oxcarbazepine and maintenance of levetiracetam and clobazam, without new crises.

Palavras Chave

KEYWORDS: intellectual deficiency, NR4A2, GRIN2A, rolandic epilepsy, epilepsy