COS-7 fibroblasts were seeded in 6-well plates and transfected with plasmids using the Magnetofectamine Kit (association of Lipofectamine 2000 and CombiMag)
This paper demonstrated the high efficiency of Magnetofectamine from OZ Biosciences to transfect COS-7 fibroblast cell line.article reference: Nat Genet. 2013 Aug 11.
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC.
Abstract
Epilepsy-aphasia
syndromes (EAS) are a group of rare, severe epileptic encephalopathies
of unknown etiology with a characteristic electroencephalogram (EEG)
pattern and developmental regression particularly affecting language.
Rare pathogenic deletions that include GRIN2A have been implicated in
neurodevelopmental disorders. We sought to delineate the pathogenic role
of GRIN2A in 519 probands with epileptic encephalopathies with diverse
epilepsy syndromes. We identified four probands with GRIN2A variants
that segregated with the disorder in their families. Notably, all four
families presented with EAS, accounting for 9% of epilepsy-aphasia
cases. We did not detect pathogenic variants in GRIN2A in other
epileptic encephalopathies (n = 475) nor in probands with benign
childhood epilepsy with centrotemporal spikes (n = 81). We report the
first monogenic cause, to our knowledge, for EAS. GRIN2A mutations are
restricted to this group of cases, which has important ramifications for
diagnostic testing and treatment and provides new insights into the
pathogenesis of this debilitating group of conditions.
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