Abstract：
:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Okumura A,Arai E,Kitamura Y,Abe S,Ikeno M,Fujimaki T,Yamamoto T,Shimizu Tdoi
10.1016/j.braindev.2015.04.004subject
Has Abstractpub_date
2015-11-01 00:00:00pages
978-82issue
10eissn
0387-7604issn
1872-7131pii
S0387-7604(15)00073-Xjournal_volume
37pub_type
杂志文章abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title：Brain & development
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更新日期：2016-09-01 00:00:00
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更新日期：2001-07-01 00:00:00
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更新日期：1990-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2018-01-01 00:00:00
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pub_type： 杂志文章
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更新日期：2013-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2011-06-01 00:00:00
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journal_title：Brain & development
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：1994-03-01 00:00:00
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更新日期：2005-10-01 00:00:00
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更新日期：2011-09-01 00:00:00
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journal_title：Brain & development
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更新日期：2005-08-01 00:00:00
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更新日期：2018-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2016-06-01 00:00:00
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pub_type： 杂志文章
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更新日期：2002-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：1980-01-01 00:00:00
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pub_type： 杂志文章
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更新日期：2000-09-01 00:00:00
abstract：BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.07.008
更新日期：2021-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90121-n
更新日期：1993-09-01 00:00:00
