The high-coverage PCR-free protocol of WGS has generated higher-power SNP discovery, especially for rare and very-rare SNVs. On comparison of the SFSs of intergenic region of 1KJPN and 1KGP SNVs, the data demonstrate a higher proportion of very-rare SNVs in the 1KJPN data set than in...
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and mig...
Patients with any of these rare conditions often do not display a single or even common types of seizures, however, but rather can display a multitude of different seizure types that include focal, multi-focal, or generalized seizures (Crino et al., 2002, Glaze et al., 1998, Kato et al...
which can lead to seizures.We report a case of GS in a woman with temporal lobe malacia which was reported for the first time in the literature.CASE SUMMARY A 73-year-old female,diagnosed case of GS,presented with repetitive stereotyped laughter a month prior to presentation,happening multiple...
Gelastic epilepsy or laughing seizures have been historically related to children with hypothalamic hamartomas. Gelastic seizures are rare; they are usually associated with other seizure types and can be restricted to a limited period during the evolution of an epileptic syndrome early-onset gelastic...
Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de... JK Bedoyan,RA Kumar,J Sudi,... - 《American Journal of Medical Genetics Part A》 被引量: 69发表: 2010年 Genes and biological proce...
Mice lacking Contactin-associated protein 2 (Cntnap2) display deficits in social interaction and communication, hyperactivity, and seizures (Peñagarikano et al., 2011). These observations confirm some effects of CNV genotype on behavior; however, determining the genes responsible for specific ...
director of the FDA's Office of Neuroscience, in a press release. “Fintepla offers an additional effective treatment option for the treatment of seizures associated with Dravet syndrome. The FDA will continue to work with companies on drug development for Dravet syndrome and other types of epileps...
Signs of prion diseases include sudden changes in your mood, memory, and movement, including: Anxiety or depression Balance problems Behavior or personality changes Dementia Memory loss Muscle control loss, like sudden jerks or twitches Seizures ...
Clinical assessments, morphological examinations, and classification were performed9,10. In brief, the team reviewed the child’s family history and medical records, including radiology and electroencephalogram (EEGs). EEGs were ordered if there was a clinical suspicion of seizures. Other screens for...