De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. [electronic resource]
- Brain : a journal of neurology 03 2018
- 698-712 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2156
10.1093/brain/awx358 doi
Animals Child Child, Preschool DNA Mutational Analysis Excitatory Amino Acid Agonists--pharmacology Family Health Female Glutamic Acid--pharmacology Glycine--metabolism HEK293 Cells Humans Infant Magnetic Resonance Imaging Male Membrane Potentials--genetics Models, Molecular Mutagenesis--genetics Mutation--genetics N-Methylaspartate--pharmacology Nerve Tissue Proteins--genetics Patch-Clamp Techniques Polymicrogyria--diagnostic imaging Rats Receptors, N-Methyl-D-Aspartate--genetics Transfection