PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic par...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-12-01
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Series: | Italian Journal of Pediatrics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13052-019-0755-2 |