Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

(2011) Masayuki Yazawa et al.   NATURE

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CaV2.1 (P/Q channel) interaction with synaptic proteins is essential for depolarization-evoked release

(2010) Moshe Cohen-Kutner et al.   Channels

CACNA1C (rs1006737) is associated with schizophrenia

(2010) M Nyegaard et al.   MOLECULAR PSYCHIATRY

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels

(2008) C. F. Barrett et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA