作者
Elena Gardella, Carla Marini, Marina Trivisano, Mark P Fitzgerald, Michael Alber, Katherine B Howell, Francesca Darra, Sabrina Siliquini, Bigna K Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sandor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E Scheffer, Renzo Guerrini, Rikke S Møller
发表日期
2018/9/18
期刊
Neurology
卷号
91
期号
12
页码范围
e1112-e1124
出版商
Lippincott Williams & Wilkins
简介
Objective
To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).
Methods
Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.
Results
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. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG …
学术搜索中的文章
E Gardella, C Marini, M Trivisano, MP Fitzgerald… - Neurology, 2018