Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Neurogenetics - 1 Apr 2017

Cavallin Mara, Bijlsma Emilia K, El Morjani Adrienne, Moutton Sébastien, Peeters Els A J, Maillard Camille, Pedespan Jean Michel, Guerrot Anne-Marie, Drouin-Garaud Valérie, Coubes Christine, Genevieve David, Bole-Feysot Christine, Fourrage Cecile, Steffann Julie, Bahi-Buisson Nadia

Abstract excerpt

Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Infant

Share to Kinesins

Share to Lissencephaly

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 27747449
DOI: 10.1007/s10048-016-0499-8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent KIF2A mutations are responsible for classic lissencephaly.PMID 27747449Read ↗

Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).Semantic proximity Read ↗

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.Semantic proximity Read ↗

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.Semantic proximity Read ↗

KIF1A mutation in a patient with progressive neurodegeneration.Semantic proximity Read ↗

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.Semantic proximity Read ↗

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.Semantic proximity Read ↗

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Semantic proximity Read ↗

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Semantic proximity Read ↗

Mutations obstructing ATP's emplacement in KIF2A nucleotide-binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.Semantic proximity Read ↗

Biallelic variants in KIF14 cause intellectual disability with microcephaly.Semantic proximity Read ↗

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.