A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

GRID2 is a member of the ionotropic glutamate receptor family of excitatory neurotransmitter receptors. GRID2 encodes the glutamate receptor subunit delta-2, selectively expressed in cerebellar Purkinje cells. The phenotype associated with loss of GRID2 function was described only in mice until now,...

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Veröffentlicht in:	Journal of child neurology 2013-07, Vol.28 (7), p.926-932
Hauptverfasser:	Utine, G. Eda, Haliloğlu, Göknur, Salancı, Bilge, Çetinkaya, Arda, Kiper, P. Özlem, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy - complications Atrophy - genetics Cerebellar Ataxia - complications Cerebellar Ataxia - genetics Cerebellum - pathology Child Chromosomes, Human, Pair 5 - genetics Disease Progression Family Health Gene Expression Profiling Humans Longitudinal Studies Magnetic Resonance Imaging Male Oligonucleotide Array Sequence Analysis Phenotype Receptors, Glutamate - genetics Sequence Deletion - genetics
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