Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 114, Issue 3, 2002, Pages 354-359

  Izzi, Claudia ^a   Barbon, Alessandro ^a   Kretz, Rebekka ^b   Sander, Thomas ^b   Barlati, Sergio ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Glutamate receptor; Juvenile absence epilepsy; Sequencing analysis

Indexed keywords

ABSENCE; ALLELE; ARTICLE; EPILEPSY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; HUMAN; MALE; MOLECULAR GENETICS; MULTIGENE FAMILY; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RECEPTOR GENE; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CHILD; DNA; DNA MUTATIONAL ANALYSIS; EPILEPSY, ABSENCE; GENE FREQUENCY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, KAINIC ACID;

GENETTA;

EID: 0037041317     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.10254     Document Type: Article

References (23)

1. Genomic organization, proposed alternative splicing mechanisms, and RNA editing structure of GRIK1
2. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene
3. Syndrome-related genetics in generalized epilepsy
4. Kainate, a double agent that generates seizures: Two decades of progress
5. Epilepsies in twins: Genetics of the major epilepsy syndromes
6. Identification of the kainate receptor subunits underlying modulation of excitatory synaptic transmission in the CA3 region of the hippocampus
7. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
8. Idiopathic generalized epilepsies with typical absences
9. Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2
10. Are some idiopathic epilepsies disorders of ion channel? A working hypothesis
11. The idiopathic generalized epilepsies of adolescence with childhood and juvenile age of onset
12. RNA editing at the Q/R site for the glutamate receptor subunits GluR2, GluR5, and GluR6 in hippocampus and temporal cortex from epileptic patients
13. Glutamate receptors and transporters in genetic and acquired models of epilepsy
14. On the nature and differential distribution of mRNAs in hippocampal neurites: Implications for neuronal functioning
15. Targeting epilepsy genes
16. Cytoplasmic polyadenylation in development and beyond
17. The genetics of idiopathic generalized epilepsy: Implications for the understand of its etiology
18. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism
19. RNA editing of brain glutamate receptor channels: Mechanism and physiology
20. Ion channels and epilepsy in man and mouse
21. The role of RNA editing of kainate receptors in synaptic plasticity and seizures
22. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
23. Molecular mechanisms for activity-regulated protein synthesis in the synapto-dendritic compartment