September 12, 2025Open Access

Multilocus Genetic Variants in a Child with Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated with CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

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Case report highlights multilocus genetic variants and their role in pharmacoresistant epilepsy, indicating the need for early genetic testing.

This case study reveals multilocus genetic variants associated with severe symptoms, including pharmacoresistant epilepsy and developmental delay.
Genetic testing identified a homozygous CC2D2A mutation alongside heterozygous variants of ABCA12 and DOCK6, and a deletion at 14q31.3–q32.11.
The child, a 5-year-old girl, displayed significant neurological dysfunction and ichthyosis despite treatment with multiple antiepileptic drugs.
These findings contribute new insights into the genetic basis of neurocutaneous syndromes, underscoring the importance of comprehensive genetic testing.

Dababseh et al. (2025) studied this question.

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Case report highlights multilocus genetic variants and their role in pharmacoresistant epilepsy, indicating the need for early genetic testing.