A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.

scientific article published on 28 September 2016

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/MGG3.236
P932PMC publication ID5118204
P698PubMed publication ID27896282

P50authorEthan M GoldbergQ54065446
P2093author name stringGuoling Tian
Nicholas J Cowan
Grant T Liu
Holly A Dubbs
Ana G Cristancho
P2860cites workThe KinI kinesin Kif2a is required for bipolar spindle assembly through a functional relationship with MCAKQ24676906
The genetics of lissencephalyQ30826834
Molecular genetics of neuronal migration disordersQ33790169
Cytoskeleton in action: lissencephaly, a neuronal migration disorderQ36672834
Aurora B and Kif2A control microtubule length for assembly of a functional central spindle during anaphaseQ37104867
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyQ37304298
Persistent hyperplastic primary vitreous: congenital malformation of the eye.Q37679315
Dystroglycanopathies: coming into focusQ37852376
Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformationsQ38246337
Microtubule Destabilizer KIF2A Undergoes Distinct Site-Specific Phosphorylation Cascades that Differentially Affect Neuronal MorphogenesisQ40567766
Kinesin superfamily protein 2A (KIF2A) functions in suppression of collateral branch extensionQ48240508
Ocular findings in Walker-Warburg syndromeQ72769167
P433issue6
P921main subjectlissencephalyQ1544416
heterozygosityQ124059385
P304page(s)599-603
P577publication date2016-09-28
P1433published inMolecular genetics & genomic medicineQ27724709
P1476titleA patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A
P478volume4

Reverse relations

cites work (P2860)
Q47595186Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Q90894002Deconstructing cortical folding: genetic, cellular and mechanical determinants
Q94948425Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Q99631302Postnatal Role of the Cytoskeleton in Adult Epileptogenesis
Q36395095Regulation of neural stem cell proliferation and differentiation by Kinesin family member 2a.

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