Abstract:
:The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (delPPP) in HCN2 that was seen in only 0.2% of blood bank controls. Currents generated by mutant HCN2 channels were approximately 35% larger than those of controls; an effect revealed using automated electrophysiology and an appropriately powered sample size. This is the first association of HCN2 and familial epilepsy, demonstrating gain of function of HCN2 current as a potential contributor to polygenic epilepsy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Dibbens LM,Reid CA,Hodgson B,Thomas EA,Phillips AM,Gazina E,Cromer BA,Clarke AL,Baram TZ,Scheffer IE,Berkovic SF,Petrou Sdoi
10.1002/ana.21909subject
Has Abstractpub_date
2010-04-01 00:00:00pages
542-6issue
4eissn
0364-5134issn
1531-8249journal_volume
67pub_type
杂志文章abstract:OBJECTIVE:Mixed pathologies are common in older persons with dementia. Little is known about mixed pathologies in probable Alzheimer disease (AD) and about the spectrum of neuropathology in mild cognitive impairment (MCI). The objective of this study was to investigate single and mixed common age-related neuropathologi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21706
更新日期:2009-08-01 00:00:00
abstract::Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410350707
更新日期:1994-01-01 00:00:00
abstract::A young man presented with apparent transient ischemic attacks following a motorcycle accident in which he sustained minor injuries only. Computerized axial tomography demonstrated a small right frontal infarct, and angiography revealed an aneurysm of the right internal carotid artery in its extracranial course. This ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040118
更新日期:1978-07-01 00:00:00
abstract::Saturated very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high-performance liquid chromatography. Ratios of C26:0 to...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300118
更新日期:1991-07-01 00:00:00
abstract::Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy characterized by myoclonic, generalized tonic-clonic, and in 30% of patients, absence seizures. We studied a three-generation pedigree of 33 members, 10 of whom were clinically affected with juvenile myoclonic epilepsy or presented with su...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390208
更新日期:1996-02-01 00:00:00
abstract::Protease-resistant prion protein, total prion protein, and glial fibrillary acidic protein were measured in various brain regions from 9 subjects with fatal familial insomnia. Six were homozygotes methionine/methionine at codon 129 (mean duration, 10.7 +/- 4 months) and 3 were heterozygotes methionine/valine (mean dur...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380107
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS:We reviewed 124 patients stra...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24485
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:To study antibody-independent contributions of B cells to inflammatory disease activity, and the immune consequences of B-cell depletion with rituximab, in patients with multiple sclerosis (MS). METHODS:B-Cell effector-cytokine responses were compared between MS patients and matched controls using a 3-signal...
journal_title:Annals of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ana.21939
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:The discovery of a posture-dependent effect on the difference between intraocular pressure (IOP) and intracranial pressure (ICP) at the level of lamina cribrosa could have important implications for understanding glaucoma and idiopathic intracranial hypertension and could help explain visual impairments in as...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24713
更新日期:2016-08-01 00:00:00
abstract::Human immunodeficiency viruses from the brain can be distinguished from peripheral blood isolates by their ability to infect established human cell lines and their sensitivity to serum neutralization. Isolates from the brain and lymph nodes obtained from the same person displayed similar host range tropism and suscept...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230716
更新日期:1988-01-01 00:00:00
abstract::In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10069
更新日期:2002-02-01 00:00:00
abstract::We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.c
更新日期:1999-06-01 00:00:00
abstract::Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and n...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20529
更新日期:2005-07-01 00:00:00
abstract::A patient developed conjugate horizontal eye deviation to the side opposite a large frontal-perisylvian hemorrhage from a ruptured aneurysm. Autopsy examination confirmed the hemispheric locus of the hemorrhage and failed to disclose any lesion of the brainstem or thalamus to explain the "wrong-way" eye deviation. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090115
更新日期:1981-01-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy is the most common clinical presentation of JC virus (JCV)-associated central nervous system (CNS) disease and has emerged as a major safety concern in multiple sclerosis patients treated with the monoclonal antibody natalizumab. Here we report clinical, radiological, and his...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23973
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:Low vitamin D status at birth may be associated with risk of adult onset multiple sclerosis, but this link has not been studied directly. We assessed the relation between neonatal vitamin D concentrations, measured in stored blood samples, and risk of multiple sclerosis. METHODS:This was a population-based c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24210
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:Somnambulism affects up to 4% of adults and constitutes one of the leading causes of sleep-related violence and self-injury. Diagnosing somnambulism with objective instruments is often difficult because episodes rarely occur in the laboratory. Because sleep deprivation can precipitate sleepwalking, we aimed t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21339
更新日期:2008-04-01 00:00:00
abstract::Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22389
更新日期:2011-04-01 00:00:00
abstract::Neuromuscular disorders reported in association with human immunodeficiency virus (HIV) infection include several forms of peripheral neuropathy and polymyositis. We report 11 patients with HIV-associated myopathy. Five patients with acquired immunodeficiency syndrome (AIDS), 2 with AIDS-related complex, and 4 otherwi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240114
更新日期:1988-07-01 00:00:00
abstract::Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440119
更新日期:1998-07-01 00:00:00
abstract::Eight patients with recent cerebral hemispheric infarction were studied with positron emission tomography and the oxygen-15 steady-state inhalation and [18F]deoxyglucose techniques to obtain values of regional cerebral blood flow, oxygen consumption, and glucose metabolism. The Sokoloff equation, used to calculate glu...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140605
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25096
更新日期:2017-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070116
更新日期:1980-01-01 00:00:00
abstract::A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms,...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400119
更新日期:1996-07-01 00:00:00
abstract:OBJECTIVE:A number of hypotheses have been put forward as to why humans respond to fever by seizing. The current leading hypotheses are that respiratory alkalosis produces an as yet unidentified change in neural excitability or that inflammatory mediators potentiate excitatory synaptic transmission. However, it is well...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21712
更新日期:2009-08-01 00:00:00
abstract::The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic cri...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380215
更新日期:1995-08-01 00:00:00
abstract::We present a patient with hemidystonia and an abnormality of the contralateral basal ganglion seen only with positron emission tomography. A 50-year-old sinistral man suffered minor trauma to the right side of his head and neck. Within 20 minutes he developed paroxysmal intermittent dystonic posturing of his right fac...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150303
更新日期:1984-03-01 00:00:00
abstract:OBJECTIVE:Wide interindividual variability exists in response to tissue plasminogen activator (t-PA) treatment in the acute phase of ischemic stroke. We aimed to find genetic variations associated with hemorrhagic transformation (HT) and mortality rates after t-PA. We then generated a clinical-genetic model for predict...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23664
更新日期:2012-11-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400220
更新日期:1996-08-01 00:00:00
abstract:OBJECTIVE:Chronic demyelination can result in axonopathy and is associated with human neurological conditions such as multiple sclerosis (MS) in adults and cerebral palsy in infants. In these disorders, myelin regeneration is inhibited by impaired differentiation of oligodendrocyte progenitors into myelin-producing oli...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23590
更新日期:2012-08-01 00:00:00