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Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures
Infantile-onset epilepsies are a set of severe, heterogeneous disorders for which clinical genetic testing yields causative mutations in ∼20%–50% of affected individuals. We report the case of a boy presenting with intractable seizures at 2 wk of age, for whom gene panel testing was unrevealing. Res...
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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983171/ https://ncbi.nlm.nih.gov/pubmed/29444904 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002360 |
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