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Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
OBJECTIVE: To perform functional characterization of a potentially pathogenic KCNB1 variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG. METHODS: Whole-exome sequencing identified the KCNB1 variant c....
Gorde:
| Argitaratua izan da: | Neurol Genet |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wolters Kluwer
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5733249/ https://ncbi.nlm.nih.gov/pubmed/29264390 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000198 |
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