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PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome
We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of PI4K2A that was homozygous in both affected individuals and was abse...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292187/ https://www.ncbi.nlm.nih.gov/pubmed/30564627 http://dx.doi.org/10.1002/acn3.677 |