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

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

Brain & development - 1 Oct 2016

Sato Ryo, Inui Takehiko, Endo Wakaba, Okubo Yukimune, Takezawa Yusuke, Anzai Mai, Morita Hiroyuki, Saitsu Hirotomo, Matsumoto Naomichi, Haginoya Kazuhiro

Abstract excerpt

The clinical phenotypes of neuronal ceroid lipofuscinoses (NCLs) have been determined based on the age of onset and clinical symptoms. NCLs with onset between age 2 and 4years are known as late infantile neuronal ceroid lipofuscinoses (LINCLs). The clinical features of LINCLs include visual loss and progressive myoclonus epilepsy (PME) characterized by myoclonus, seizures, ataxia, and both mental and motor...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Magnetic Resonance Imaging

Share to Membrane Proteins

Share to Neuronal Ceroid-Lipofuscinoses

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 27165443
DOI: 10.1016/j.braindev.2016.04.007

Genes

CLN6

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

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.PMID 27165443Read ↗

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.Semantic proximity Read ↗

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Two novel CLN6 mutations in variant late‐infantile neuronal ceroid lipofuscinosis patients of Turkish originSemantic proximity Read ↗

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.Semantic proximity Read ↗

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.Semantic proximity Read ↗

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome SequencingSemantic proximity Read ↗

CLN6-related continuum phenotype caused by aberrant splicing.Semantic proximity Read ↗

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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