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Abstract

Background: Epilepsy and behavioral disorders in children can result from various genetic etiologies. We report the case of a child with refractory epilepsy and behavioral disturbances in whom two rare variants were identified in the SLC2A1 and SMC1A genes. This case highlights the importance and challenges of early molecular diagnosis in resource-limited African settings. Case Presentation: A male child presented with early-onset epilepsy and significant behavioral disturbances. Neurological examination showed no malformations. Brain MRI was normal. Sleep EEG revealed no interictal epileptiform activity. Psychomotor assessment indicated hyperactivity, attentional deficits, fine and gross motor difficulties, and opposition to limits. Initial developmental screening was performed using the Denver Developmental Screening Test II, which showed mild delay in fine motor coordination and expressive language. A subsequent comprehensive evaluation using the Bayley Scales of Infant and Toddler Development, 3rd edition, confirmed a global psychomotor delay predominantly affecting coordination and attention. Genetic analysis from a buccal swab using targeted next-generation sequencing revealed two heterozygous rare variants: SLC2A1 c.580_585del (p. Phe194_Ile195del) and SMC1A c.2414A>G. These variants have not been previously reported in African literature. The patient received adapted antiepileptic therapy and multidisciplinary follow-up. Conclusion: This case illustrates the exceptional coexistence of SLC2A1 and SMC1A variants and underlines the value of early molecular diagnosis even in resource-limited contexts, to guide personalized management.

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