CACNA1D de novo mutations in autism spectrum disorders activate cav1.3 l-type calcium channels

Biological Psychiatry

Volumn 77, Issue 9, 2015, Pages 816-822

  Pinggera, Alexandra ^a   Lieb, Andreas ^a   Benedetti, Bruno ^a   Lampert, Michaela ^a   Monteleone, Stefania ^a   Liedl, Klaus R ^a   Tuluc, Petronel ^a   Striessnig, Jörg ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

Autism spectrum disorders; Calcium channel blockers; Human genetics; L type calcium channels; Neuropsychiatric disorders; Whole exome sequencing

Indexed keywords

CALCIUM CHANNEL; ALPHA1D (CAV1.3) L-TYPE CALCIUM CHANNEL, HUMAN; CACNA1D PROTEIN, HUMAN; CALCIUM CHANNEL L TYPE;

ARTICLE; AUTISM; CACNA1D GENE; CALCIUM CURRENT; CHANNEL GATING; CONTROLLED STUDY; EXOME; GAIN OF FUNCTION MUTATION; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; PRIORITY JOURNAL; WHOLE CELL PATCH CLAMP; GENETIC DATABASE; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; MEMBRANE POTENTIAL; METABOLISM; MISSENSE MUTATION; PATCH CLAMP TECHNIQUE; PHYSIOLOGY;

AUTISM SPECTRUM DISORDER; CALCIUM CHANNELS, L-TYPE; DATABASES, GENETIC; HEK293 CELLS; HUMANS; MEMBRANE POTENTIALS; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; TRANSFECTION;

EID: 84926421207     PISSN: 00063223     EISSN: 18732402     Source Type: Journal    
DOI: 10.1016/j.biopsych.2014.11.020     Document Type: Article

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