Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy-Reference-Cited by-同舟云学术

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Published:2004-03-02 Issue:4 Volume:23 Page:300-305
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ranta Susanna,Topcu Meral,Tegelberg Saara,Tan Hüseyin,Üstübütün Alp,Saatci Isil,Dufke Andreas,Enders Herbert,Pohl Keith,Alembik Yves,Mitchell Wayne A.,Mole Sara E.,Lehesjoki Anna-Elina

Funder

Academy of Finland, UK (Project 43029)

Sigrid Juselius Foundation

Medical Research Council

The Wellcome Trust, UK

Finnish State Grant

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20018/fullpdf

Reference16 articles.

1. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse;Gao;Am J Hum Genet,2002

2. Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis;Herva;Brain Pathol,2000

3. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration;Hirvasniemi;J Med Genet,1994

4. Northern epilepsy syndrome: clinical course and the effect of medication on seizures;Hirvasniemi;Epilepsia,1995

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