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The pitt-hopkins syndrome: Report of 5 patients and literature comparison
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 ... -
Preliminary study about a significant and treatable cause of epileptic encephalopathy: GRIN2D mutation
Kutluk, Gültekin; Randa, Nadide Cemre (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. ...
