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Article

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

PloS one - 1 Jan 2014

Patiño Liliana Catherine, Battu Rajani, Ortega-Recalde Oscar, Nallathambi Jeyabalan, Anandula Venkata Ramana, Renukaradhya Umashankar, Laissue Paul

Abstract excerpt

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily...

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Source

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Identifiers

PMID: 25333361
DOI: 10.1371/journal.pone.0109576
PMCID: PMC4198115

Genes

NCL
MFSD8
CLN5
CLN6
CLN8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.PMID 25333361Read ↗

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

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.Semantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.Semantic proximity Read ↗

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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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