Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Tao, Hirotaka
Mutations in prickle orthologs cause seizures in flies, mice, and humans. [electronic resource] - American journal of human genetics Feb 2011 - 138-49 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1537-6605
10.1016/j.ajhg.2010.12.012 doi
Adaptor Proteins, Signal Transducing
Animals
Blotting, Western
Brain--metabolism
Calcium--metabolism
Carrier Proteins--genetics
DNA-Binding Proteins--genetics
Drosophila Proteins--genetics
Drosophila melanogaster--genetics
Embryo, Nonmammalian--cytology
Epilepsies, Myoclonic--genetics
Female
Heterozygote
Humans
Immunoenzyme Techniques
In Situ Hybridization
LIM Domain Proteins
Male
Mice
Mice, Knockout
Mutation--genetics
Nerve Tissue Proteins--genetics
Phenotype
RNA, Messenger--genetics
Reverse Transcriptase Polymerase Chain Reaction
Seizures--etiology
Tumor Suppressor Proteins--genetics
Zebrafish--genetics
Zebrafish Proteins--genetics
Mutations in prickle orthologs cause seizures in flies, mice, and humans. [electronic resource] - American journal of human genetics Feb 2011 - 138-49 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1537-6605
10.1016/j.ajhg.2010.12.012 doi
Adaptor Proteins, Signal Transducing
Animals
Blotting, Western
Brain--metabolism
Calcium--metabolism
Carrier Proteins--genetics
DNA-Binding Proteins--genetics
Drosophila Proteins--genetics
Drosophila melanogaster--genetics
Embryo, Nonmammalian--cytology
Epilepsies, Myoclonic--genetics
Female
Heterozygote
Humans
Immunoenzyme Techniques
In Situ Hybridization
LIM Domain Proteins
Male
Mice
Mice, Knockout
Mutation--genetics
Nerve Tissue Proteins--genetics
Phenotype
RNA, Messenger--genetics
Reverse Transcriptase Polymerase Chain Reaction
Seizures--etiology
Tumor Suppressor Proteins--genetics
Zebrafish--genetics
Zebrafish Proteins--genetics