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

WDR45 mutations in three male patients with West syndrome.

Journal of human genetics - 1 Jul 2016

Nakashima Mitsuko, Takano Kyoko, Tsuyusaki Yu, Yoshitomi Shinsaku, Shimono Masayuki, Aoki Yoshihiro, Kato Mitsuhiro, Aida Noriko, Mizuguchi Takeshi, Miyatake Satoko, Miyake Noriko, Osaka Hitoshi, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

West syndrome is an early-onset epileptic encephalopathy characterized by clustered spasms with hypsarrhythmia seen on electroencephalogram (EEG). West syndrome is genetically heterogeneous, and its genetic causes have not been fully elucidated. WD Repeat Domain 45 (WDR45) resides on Xp11.23, and encodes a member of the WD repeat protein interacting with phosphoinositides (WIPI) family, which is crucial in the...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to High-Throughput Nucleotide Sequencing

Share to Magnetic Resonance Imaging

Share to Microsatellite Repeats

Share to Spasms, Infantile

Source

Identifiers

PMID: 27030146
DOI: 10.1038/jhg.2016.27

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

WDR45 mutations in three male patients with West syndrome.PMID 27030146Read ↗

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.Semantic proximity Read ↗

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.Semantic proximity Read ↗

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.Semantic proximity Read ↗

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Semantic proximity Read ↗

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.Semantic proximity Read ↗

Genotype-phenotype correlation on 45 individuals with West syndrome.Semantic proximity Read ↗

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.Semantic proximity Read ↗

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.Semantic proximity Read ↗

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.Semantic proximity Read ↗

A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism.Semantic proximity Read ↗

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.Semantic proximity Read ↗

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.Semantic proximity Read ↗

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