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epilepsy
- ... been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single protein building ... to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of laforin prevents ...
- ... of CLN8 disease is characterized by recurrent seizures (epilepsy) and a decline in intellectual function that begins ... a gradual worsening of motor and cognitive skills, epilepsy, and vision loss. In this form, signs and ...
- ... some people with conditions that fall along the epilepsy-aphasia spectrum. This group of conditions is characterized ... developmental skills; and in many cases, recurrent seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with ...
- ... in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Each of these mutations changes a single ... OK. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 2005 Dec; ...
- ... SCN1A gene have been found to cause genetic epilepsy with febrile seizures plus (GEFS+), which is a ... as Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI), that cause more serious ...
- ... have been identified in people with autosomal dominant epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, like buzzing or humming, during ...
- ... gene have been found to cause SCN8A-related epilepsy with encephalopathy. This condition is characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The ...
- ... gene have been found to cause familial focal epilepsy with variable foci (FFEVF), which is an uncommon form of recurrent seizures (epilepsy) that runs in families. Affected individuals experience focal ...
- ... mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form of epilepsy. One region of DNA that controls the activity ...
- ... been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single protein building ... to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of malin prevents ...
