Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Although SHE and autosomal-dominant SHE (ADSHE) have been considered benign epileptic conditions for a long time, emerging data have shed light on the severity of this disorder and some peculiar features can impact negatively on the quality of life of SHE patients. In fact, seizure frequency can be very high, resulting in nocturnal sleep fragmentation with possible diurnal consequences such as excessive sleepiness and fatigue. Moreover, recent studies, adopting a systematic neuropsychological assessment, have shown deficits in memory, executive functions and visuo-spatial abilities in almost half of SHE patients. Intellectual disabilities and psychiatric disorders have also been reported in some genetic forms. SHE may also exert a negative effect on health-related quality of life, especially in domains pertaining to a patient's role in the family, social context and patient's illness experience. Despite a good response to pharmacological treatment, especially with carbamazepine, 30% of SHE patients suffer from drug-resistant seizures. Finally, recent studies suggest a poor prognosis in a high percentage of SHE patients with a 20.4% cumulative probability of achieving terminal remission at 10 years from onset. For selected drug-resistant SHE patients, epilepsy surgery is the only treatment offering high probability of recovery, both for seizures and for epilepsy-related sleep alterations.
 ...
PMID:Sleep-related hypermotor epilepsy: prevalence, impact and management strategies. 3034 13

Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant inheritance pattern has been reported. A 74-year-old male with history of focal epilepsy secondary to possible neurocysticercosis presented at the emergency department due to sudden onset of aphasia, left central facial paralysis, and dysphagia secondary to catastrophic intracerebral hemorrhage. Cerebral MRI showed multiple cerebral cavernous malformations (CCM)-like lesions and, on the general exploration, multiple dark-blue nodules, rubbery in consistency. One week later he died due to complicated pneumonia; a brain autopsy was performed showing multiple vascular malformations. His son had a history of focal epilepsy presumed to be related to neurocysticercosis. He had the same skin lesions and brain MRI pattern. Histological analysis of the skin lesions of the two cases showed venous vascular malformations. A non-systematic review was carried out, in which all case reports of blue nevus syndrome with neurological manifestations in adults were included.
 ...
PMID:Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review. 3231 9