The Authors described an epileptic boy aged 16 years 5 months affected by a Fragile X Syndrome with a fragile site known as 'FRAXE'. The patient had a full mutation but did not present the phenotypic expression of the syndrome. The brother and the mother were both affected by FRAXE too. Patient epileptic seizures were absences and EEG recording showed multifocal, diffuse and generalized paroxysmal abnormalities.
Parmeggiani Antonia, Traetta Davide, Giovanardi Rossi Paola. (1996). Fragile X syndrome (FRAXE): A case report with a full mutation without phenotypic expression and epilepsy. BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA, n.d.(95-96), 347-349 [10.1007/s40519-022-01425-3].
Fragile X syndrome (FRAXE): A case report with a full mutation without phenotypic expression and epilepsy
Parmeggiani Antonia;Giovanardi Rossi Paola.
1996
Abstract
The Authors described an epileptic boy aged 16 years 5 months affected by a Fragile X Syndrome with a fragile site known as 'FRAXE'. The patient had a full mutation but did not present the phenotypic expression of the syndrome. The brother and the mother were both affected by FRAXE too. Patient epileptic seizures were absences and EEG recording showed multifocal, diffuse and generalized paroxysmal abnormalities.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
