Timothy Syndrome
Condition / Disease
autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C
Mentioned in 2 videos
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Videos Mentioning Timothy Syndrome
The Causes & Treatments for Autism | Dr. Karen Parker
Andrew Huberman
A condition resulting from a mutation in an L-type calcium channel, associated with both cardiac issues and autism.
Curing Autism, Epilepsy & Schizophrenia with Stem Cells | Dr. Sergiu Pașca
Andrew Huberman
A genetic form of autism caused by a single letter mutation in a calcium channel gene, leading to severe presentation including intellectual disability and epilepsy. Dr. Pasca's lab developed a therapeutic for this condition.