Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Dazzo, Emanuela

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. [electronic resource] - American journal of human genetics Jun 2015 - 992-1000 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2015.04.020 doi


Animals
Base Sequence
Cell Adhesion Molecules, Neuronal--blood
Chromosome Mapping
Epilepsy, Frontal Lobe--genetics
Exome
Extracellular Matrix Proteins--blood
Fluorescent Antibody Technique
Gene Components
Humans
Immunoblotting
Intercellular Signaling Peptides and Proteins
Models, Molecular
Molecular Sequence Data
Mutation, Missense--genetics
Nerve Tissue Proteins--blood
Pedigree
Polymorphism, Single Nucleotide--genetics
Protein Conformation
Protein Folding
Proteins--metabolism
Rats
Reelin Protein
Sequence Analysis, DNA
Serine Endopeptidases--blood
Sleep Wake Disorders--genetics