Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series

Clinical heterogeneity and diagnostic challenges in CASK-related neurodevelopmental disorders: a longitudinal observational study

CASK-related disorders may present with severe neurodevelopmental impairment and cerebral palsy–like phenotypes, even in the absence of characteristic neuroimaging findings, which should raise suspicion for CASK-related disorders.

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

A novel mutation in SETD1A is associated with early-onset epilepsy—a rare case report

This study may expand the mutation and phenotypic spectrum of SETD1A-related disorders, establishing the relationship between SETD1A variants and isolated early-onset epilepsy without accompanying severe neurodevelopmental deficits, and highlighting the value of genetic testing in infants with unexplained epilepsy.

Clinical Phenotypes Associated with NRXN1 Deletions in Five Children with Autism Spectrum Disorder in Oman

Clinical heterogeneity among children with NRXN1 deletions illustrates clinical heterogeneity among children with autism spectrum disorder and supports the need for larger studies to better define genotype-phenotype relationships.

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome

This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.

Identification of Two Rare Variants in SLC2A1 and SMC1A in a Child with Epilepsy and Behavioral Disorders: A Case Report from Côte d’Ivoire

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.