The University of Southampton
University of Southampton Institutional Repository

Progressive myoclonic epilepsy with Fanconi syndrome

Progressive myoclonic epilepsy with Fanconi syndrome
Progressive myoclonic epilepsy with Fanconi syndrome
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
2042-5333
1-4
Seaby, Eleanor
d81ad132-be58-404d-b709-3f67f0f2be13
Gilbert, Rodney
a60642f2-761a-4a29-acad-2720db1d8ce9
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Clarke, Antonia
34370572-c6b8-49c0-b33e-0e921bf84b1d
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Seaby, Eleanor
d81ad132-be58-404d-b709-3f67f0f2be13
Gilbert, Rodney
a60642f2-761a-4a29-acad-2720db1d8ce9
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Clarke, Antonia
34370572-c6b8-49c0-b33e-0e921bf84b1d
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9

Seaby, Eleanor, Gilbert, Rodney, Pengelly, Reuben, Andreoletti, Gaia, Clarke, Antonia and Ennis, Sarah (2016) Progressive myoclonic epilepsy with Fanconi syndrome. JRSM Short Reports, 7 (6), 1-4. (doi:10.1177/2054270415623145). (PMID:27293772)

Record type: Article

Abstract

This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.

Text
2016, Seaby_Progressive myoclonic epilepsy with Fanconi syndrome.pdf - Version of Record
Available under License Other.
Download (170kB)

More information

Accepted/In Press date: 13 November 2015
e-pub ahead of print date: 6 June 2016
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 396882
URI: http://eprints.soton.ac.uk/id/eprint/396882
ISSN: 2042-5333
PURE UUID: 48315b1e-40c5-468f-a1e7-05c5f7f05798
ORCID for Reuben Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 14 Jun 2016 15:49
Last modified: 18 Feb 2021 17:22

Export record

Altmetrics

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×