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

Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022

Ji Caihong, Wu Dengchang, Wang Kang

Abstract excerpt

DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the detailed clinical manifestations of a female patient, carrying a novel de novo variant in DYNC1H1 (p.H311Y), who presented with malformation of...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Cytoplasmic Dyneins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drug Resistant Epilepsy

Share to Exome Sequencing

Share to Intellectual Disability

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 35088241
DOI: 10.1007/s10072-021-05824-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.PMID 35088241Read ↗

Enlarging the phenotypical spectrum of DYNC1H1-related epilepsy.Semantic proximity Read ↗

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.Semantic proximity Read ↗

DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.Semantic proximity Read ↗

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.Semantic proximity Read ↗

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.Semantic proximity Read ↗

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.Semantic proximity Read ↗

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.Semantic proximity Read ↗

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Semantic proximity Read ↗

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.Semantic proximity Read ↗

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.Semantic proximity Read ↗

DYNC1H1-related epilepsy: Genotype-phenotype correlation.Semantic proximity Read ↗

Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Semantic proximity Read ↗

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