Article
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
American journal of human genetics - 2 Jan 2014
Baple Emma L, Maroofian Reza, Chioza Barry A, Izadi Maryam, Cross Harold E, Al-Turki Saeed, Barwick Katy, Skrzypiec Anna, Pawlak Robert, Wagner Karin, Coblentz Roselyn, Zainy Tala, Patton Michael A, Mansour Sahar, Rich Phillip, Qualmann Britta, Hurles Matt E, Kessels Michael M, Crosby Andrew H
Abstract excerpt
The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate series of molecular and cellular cues and responses. Although the cortical actin cytoskeleton is known to play a key role in neuromorphogenesis, relatively little is known about the specific molecules important for this process. Using linkage analysis and...
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