Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )
Abstract
Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated neurological disorders (KAND). Here, we report one mutation-negative female with classic Rett syndrome (RTT) harboring a de novo heterozygous novel variant [NP_001230937.1:p.(Asp248Glu)] in the...
Paper Details
Title
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )
Published Date
Jul 22, 2020
Journal
Volume
41
Issue
10
Pages
1761 - 1774
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