منابع مشابه
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
متن کاملCACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na(v)1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome. We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syn...
متن کاملRare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from d...
متن کاملRare copy number variants are an important cause of epileptic encephalopathies.
OBJECTIVE Rare copy number variants (CNVs)--deletions and duplications--have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed. METHODS We evaluated 315 patients with epileptic e...
متن کاملEpileptic Encephalopathy
Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1928
ISSN: 0022-3050
DOI: 10.1136/jnnp.s1-8.31.223