eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | timothy syndrome |
| Comorbidity | C0004352|autism |
| Sentences | 2 |
| PubMedID- 22120178 | These findings provide strong evidence that ca(v)1.2 regulates the differentiation of cortical neurons in humans and offer new insights into the causes of autism in individuals with timothy syndrome. |
| PubMedID- 20110531 | The frequency of coupled gating events increases in hypertensive smooth muscle and in cells expressing a mutant cav1.2 channel that causes arrhythmias and autism in humans with timothy syndrome (lqt8). |
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