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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
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 paroxysms s...
Sparad:
| I publikationen: | Ital J Pediatr |
|---|---|
| Huvudupphovsmän: | , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BioMed Central
2019
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6894132/ https://ncbi.nlm.nih.gov/pubmed/31801583 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-019-0755-2 |
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