NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease

Lafora disease is an autosomal recessive disorder that causes myoclonic epilepsy1,2,3. The disease is characterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous system. More than 90% of human Lafora disease cases are caused by genetics varian...

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Autores principales:	Barrientos, Laura Soledad, Maiolini, Arianna, Häni, Anna Katrin, Jagannathan, Vidya, Leeb, Tosso
Formato:	Articulo Comunicacion
Lenguaje:	Inglés
Publicado:	2018
Materias:	Ciencias Veterinarias Trinucleotide repeat expansion Whole genome sequencing Lafora disease Dna repeat expansion Genetic variants Genetics Biology
Acceso en línea:	http://sedici.unlp.edu.ar/handle/10915/125525
Aporte de:	SEDICI (UNLP) de Universidad Nacional de La Plata

id	I19-R120-10915-125525
record_format	dspace
institution	Universidad Nacional de La Plata
institution_str	I-19
repository_str	R-120
collection	SEDICI (UNLP)
language	Inglés
topic	Ciencias Veterinarias Trinucleotide repeat expansion Whole genome sequencing Lafora disease Dna repeat expansion Genetic variants Genetics Biology
spellingShingle	Ciencias Veterinarias Trinucleotide repeat expansion Whole genome sequencing Lafora disease Dna repeat expansion Genetic variants Genetics Biology Barrientos, Laura Soledad Maiolini, Arianna Häni, Anna Katrin Jagannathan, Vidya Leeb, Tosso NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
topic_facet	Ciencias Veterinarias Trinucleotide repeat expansion Whole genome sequencing Lafora disease Dna repeat expansion Genetic variants Genetics Biology
description	Lafora disease is an autosomal recessive disorder that causes myoclonic epilepsy1,2,3. The disease is characterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous system. More than 90% of human Lafora disease cases are caused by genetics variants in either EPM2A, encoding the laforin glucan phosphatase or NHLRC1 encoding the NHL repeat containing E3 ubiquitin protein ligase 1, which has also been termed EPM2B or malin1,2,4 . Lafora disease in animals has similar clinical signs as the human disease, including spontaneous and reflex myoclonus, jerks and generalized tonic clonic seizures. Case description: A 10-year old female spayed Chihuahua was presented at the Small Animal Hospital of the University of Bern. Lafora disease was suspected based on neurological examination, seizures semiology, MRI and CSF findings. An EDTA blood sample was collected for further genetic analysis.
format	Articulo Comunicacion
author	Barrientos, Laura Soledad Maiolini, Arianna Häni, Anna Katrin Jagannathan, Vidya Leeb, Tosso
author_facet	Barrientos, Laura Soledad Maiolini, Arianna Häni, Anna Katrin Jagannathan, Vidya Leeb, Tosso
author_sort	Barrientos, Laura Soledad
title	NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
title_short	NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
title_full	NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
title_fullStr	NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
title_full_unstemmed	NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
title_sort	nhlrc1 dodecamer repeat expansion demonstrated by whole genome sequencing in a chihuahua with lafora disease
publishDate	2018
url	http://sedici.unlp.edu.ar/handle/10915/125525
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NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease

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