Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years.
The phenotype of SCN8A developmental and epileptic encephalopathy / Gardella E, M.C.. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - (2018), pp. 1112-1124. [10.1212/WNL.0000000000006199]
The phenotype of SCN8A developmental and epileptic encephalopathy
Marini C;FONTANA, EMANUELE;Russo S;Montomoli M;Guerrini R;
2018
Abstract
Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years.
I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
