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Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

https://arctichealth.org/en/permalink/ahliterature211825
Source
Am J Hum Genet. 1996 Jun;58(6):1247-53
Publication Type
Article
Date
Jun-1996
Author
K. Virtaneva
J. Miao
A L Träskelin
N. Stone
J A Warrington
J. Weissenbach
R M Myers
D R Cox
P. Sistonen
A. de la Chapelle
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Am J Hum Genet. 1996 Jun;58(6):1247-53
Date
Jun-1996
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
Child
Chromosome Mapping
Chromosomes, Human, Pair 21
Epilepsies, Myoclonic - genetics
Female
Finland
Genes, Recessive
Genetic Linkage
Genetic markers
Haplotypes
Humans
Male
Molecular Sequence Data
Pedigree
Polymorphism, Genetic
Abstract
The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated disease families from an isolated Finnish population in which a putative single ancestral EPM1 mutation has segregated for an estimated 100 generations. By thus exploiting historical recombinations in haplotype analysis, EPM1 could be assigned to the approximately 175-kb interval between the markers D21S2040 and D21S1259.
Notes
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PubMed ID
8651302 View in PubMed
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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

https://arctichealth.org/en/permalink/ahliterature271701
Source
Epilepsia. 2015 Dec;56(12):e203-8
Publication Type
Article
Date
Dec-2015
Author
Jan Larsen
Katrine Marie Johannesen
Jakob Ek
Shan Tang
Carla Marini
Susanne Blichfeldt
Maria Kibaek
Sarah von Spiczak
Sarah Weckhuysen
Mimoza Frangu
Bernd Axel Neubauer
Peter Uldall
Pasquale Striano
Federico Zara
Rebecca Kleiss
Michael Simpson
Hiltrud Muhle
Marina Nikanorova
Birgit Jepsen
Niels Tommerup
Ulrich Stephani
Renzo Guerrini
Morten Duno
Helle Hjalgrim
Deb Pal
Ingo Helbig
Rikke Steensbjerre Møller
Source
Epilepsia. 2015 Dec;56(12):e203-8
Date
Dec-2015
Language
English
Publication Type
Article
Keywords
Carbohydrate Metabolism, Inborn Errors - epidemiology - genetics
Child, Preschool
Denmark - epidemiology
Epilepsies, Myoclonic - genetics
Epilepsy, Absence - genetics
Epilepsy, Generalized - genetics
Glucose Transporter Type 1 - deficiency - genetics - physiology
Humans
Infant
Monosaccharide Transport Proteins - deficiency - genetics
Mutation
Syndrome
Abstract
The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.
PubMed ID
26537434 View in PubMed
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