Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature.
Gao C et al.
Heliyon, 2023
A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.
Vadlamudi L et al.
Journal of Clinical Medicine, 2022
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Wonkam A et al.
Communications Biology, 2022
Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation.
Manka SW et al.
Embo Reports, 2020
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
Somatic mutations in cerebral cortical malformations.
Jamuar SS et al.
The New England Journal of Medicine, 2014
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2013
Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.
Chou A et al.
Clinical Genetics, 2009
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Leger PL et al.
Neurogenetics, 2008
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
Kappeler C et al.
The Journal of Comparative Neurology, 2007
The DCX-domain tandems of doublecortin and doublecortin-like kinase.
Kim MH et al.
Nature Structural Biology, 2003
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Matsumoto N et al.
European Journal of Human Genetics : Ejhg, 2001
Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin.
Yoshiura K et al.
Journal of Neurobiology, 2000
Doublecortin mutations cluster in evolutionarily conserved functional domains.
Sapir T et al.
Human Molecular Genetics, 2000
A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.
Kato M et al.
Human Genetics, 1999
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Sossey-Alaoui K et al.
Human Molecular Genetics, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
des Portes V et al.
Human Molecular Genetics, 1998