Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

doi:10.1016/j.ajhg.2020.01.002

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

Community

Back to search

Article

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

American journal of human genetics - 6 Feb 2020

Wagner Matias, Skorobogatko Yuliya, Pode-Shakked Ben, Powell Cynthia M, Alhaddad Bader, Seibt Annette, Barel Ortal, Heimer Gali, Hoffmann Chen, Demmer Laurie A, Perilla-Young Yezmin, Remke Marc, Wieczorek Dagmar, Navaratnarajah Tharsini, Lichtner Peter, Klee Dirk, Shamseldin Hanan E, Al Mutairi Fuad, Mayatepek Ertan, Strom Tim, Meitinger Thomas, Alkuraya Fowzan S, Anikster Yair, Saltiel Alan R, Distelmaier Felix

Abstract excerpt

Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to neuropediatric diseases. Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating...

Read the complete abstract on PubMed

Topics

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

Share to Cell Movement

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family

Share to Feeding and Eating Disorders

Share to GTPase-Activating Proteins

Share to Muscle Hypotonia

Share to Nerve Tissue Proteins

Share to Neurodevelopmental Disorders

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 32004447
DOI: 10.1016/j.ajhg.2020.01.002
PMCID: PMC7010976

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.PMID 32004447Read ↗

<i>De novo</i> mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySemantic proximity Read ↗

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.Semantic proximity Read ↗

HACE1 deficiency leads to structural and functional neurodevelopmental defectsSemantic proximity Read ↗

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.Semantic proximity Read ↗

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.Semantic proximity Read ↗

RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges.Semantic proximity Read ↗

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.Semantic proximity Read ↗

The molecular functions of RIT1 and its contribution to human disease.Semantic proximity Read ↗

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.Semantic proximity Read ↗

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.Semantic proximity Read ↗

Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growthSemantic proximity Read ↗

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.Semantic proximity Read ↗

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