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Preliminary study about a significant and treatable cause of epileptic encephalopathy: GRIN2D mutation
(2021)
Aim: The GRIN2D gene mutation causes severe forms of epileptic encephalopathy.
NMDAR antagonists and magnesium sulfate could be useful as adjunctive therapy to
control seizures in individuals with GRIN2D encephalopathy. ...
The pitt-hopkins syndrome: Report of 5 patients and literature comparison
(2021)
Pitt-Hopkins syndrome (PTHS) is characterized by developmental delay, intellectual disability and behavioral changes, distinctive facial gestalt, and breathing abnormalities. PTHS is caused by deletions or pathological ...