Abstract:
:We examined the phenotypic variation and clinical genetics in nine families with generalized epilepsy with febrile seizures plus (GEFS+). This genetic epilepsy syndrome with heterogeneous phenotypes was hitherto described in only one family. We obtained genealogical information on 799 individuals and conducted detailed evaluation of 272 individuals. Ninety-one individuals had a history of seizures and 63 had epilepsy consistent with the GEFS+ syndrome. Epilepsy phenotypes were febrile seizures (FS) in 31, febrile seizures plus (FS+) in 15, FS+ with other seizure types (atonic, myoclonic, absence, or complex partial) in 8, and myoclonic-astatic epilepsy in 9 individuals. Inheritance was autosomal dominant with approximately 60% penetrance. This study confirms and expands the spectrum of GEFS+ and provides new insights into the phenotypic relationships and genetics of FS and the generalized epilepsies of childhood. Moreover, the ability to identify large families with this newly recognized common, childhood-onset, generalized genetic epilepsy syndrome suggests that it should be a prime target for attempts to identify genes relevant to FS and generalized epilepsy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Singh R,Scheffer IE,Crossland K,Berkovic SFdoi
10.1002/1531-8249(199901)45:1<75::aid-art13>3.0.cosubject
Has Abstractpub_date
1999-01-01 00:00:00pages
75-81issue
1eissn
0364-5134issn
1531-8249journal_volume
45pub_type
杂志文章abstract::Multiple sclerosis (MS) has been associated with HLA-DR2 for more than 20 years, and a large number of studies have addressed the relation between MS and the HLA class II genes, which are our major immune-response genes. This has produced a complex and confusing picture that is difficult to interpret. With the advent ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410360706
更新日期:1994-01-01 00:00:00
abstract::Multiple sclerosis (MS) is characterized by patchy accumulations of inflammatory cells combined with demyelination. There are mononuclear cells in blood and cerebrospinal fluid of patients with MS that produce interferon-gamma and interleukin-4 in response to myelin basic protein (MBP) and proteolipid protein (PLP). H...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350211
更新日期:1994-02-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a lethal degenerative disorder of motoneurons, which may occur concurrently with frontotemporal dementia. Genetic analyses of the ∼10% of ALS cases that are dominantly inherited provide insight into ALS pathobiology. Two broad themes are evident. One, prompted by investigations o...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24012
更新日期:2013-09-01 00:00:00
abstract::We report the clinical, radiological, and neuropathological features of selective brainstem injury in an asphyxiated term infant. Disproportionate injury to thalamus, basal ganglia, and brainstem with relative sparing of cortex and subcortical white matter is observed occasionally after acute total asphyxia. Although ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230115
更新日期:1988-01-01 00:00:00
abstract::We studied neuronal activity and its relation to the accumulation of neurofibrillary tangles in Alzheimer's disease (AD) neurons by in situ hybridization to cytochrome oxidase subunit III messenger RNA, a marker of mitochondrial energy metabolism. In AD midtemporal cortex, levels of cytochrome oxidase subunit III mess...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400310
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVE:The primary imaging modalities used to select patients for endovascular thrombectomy (EVT) are noncontrast computed tomography (CT) and CT perfusion (CTP). However, their relative utility is uncertain. We prospectively assessed CT and CTP concordance/discordance and correlated the imaging profiles on both wit...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25669
更新日期:2020-03-01 00:00:00
abstract::We used spin-echo magnetic resonance imaging and proton magnetic resonance spectroscopic imaging in 8 patients with probable Alzheimer's disease and in 10 age-matched elderly control subjects to assess the effects of Alzheimer's disease on the brain. On magnetic resonance images the patients showed significant ventric...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360110
更新日期:1994-07-01 00:00:00
abstract::The etiopathogenesis of Parkinson's disease (PD) has been elusive. Recently, several lines of evidence have converged to suggest that defects in the ubiquitin-proteasome system and proteolytic stress underlie nigral pathology in both familial and sporadic forms of the illness. In support of this concept, mutations in ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.10512
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:Patients with temporal lobe epilepsy often display cognitive comorbidity with recurrent seizures. However, the cellular mechanisms underlying the impairment of neuronal information processing remain poorly understood in temporal lobe epilepsy. Within the hippocampal formation neuronal networks undergo major r...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24348
更新日期:2015-04-01 00:00:00
abstract::A young man developed pathological thirst and hyperdipsia, hyperphagia, disordered temperature regulation, a lowered threshold for aggressive behavior, apathy, impaired memory, and seizures following encephalitis. He had marked hyponatremia. Bouts of water drinking produced water intoxication and precipitated status e...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130217
更新日期:1983-02-01 00:00:00
abstract::Basis pontis lacunes cause contralateral but rarely ipsilateral ataxia. We explored this phenomenon with isotope tract tracing in the rhesus monkey. Labeled pontocerebellar fibers cross midline and disperse widely in the opposite hemipons before coalescing in the brachium pontis. This anatomical arrangement suggests t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20060
更新日期:2004-04-01 00:00:00
abstract::Results of intensive prevalence surveys on multiple sclerosis carried out in different small regions of Italy have suggested that this country falls into the high-frequency zone for the disease. To verify this hypothesis by studying a large population, we conducted intensive incidence and prevalence survey in the prov...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170117
更新日期:1985-01-01 00:00:00
abstract::Nerve fibers containing neuropeptide Y (NPY), vasoactive intestinal polypeptide (VIP), substance P (SP), and calcitonin gene-related peptide (CGRP) were seen in the adventitia or at the adventitia-media border of the human temporal artery. Pharmacological experiments on isolated temporal artery segments revealed that ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200409
更新日期:1986-10-01 00:00:00
abstract::The mechanisms responsible for early prenecrotic ischemic brain edema were investigated in rats by comparing brain metabolism, tissue water (HOH) content, and sodium and potassium ion concentration in brain during ischemia induced by decapitation, by the Pulsinelli-Brierley technique, and by carotid embolization. Alth...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090310
更新日期:1981-03-01 00:00:00
abstract::We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220412
更新日期:1987-10-01 00:00:00
abstract::Stereotaxic injection of kainic acid into rat striatum produces neuronal degeneration and neurochemical alterations resembling Huntington's disease (HD). Since correction of the deficiency in gamma-aminobutyric acid (GABA) in HD may be of therapeutic value, the efficacy of drugs that inhibit the GABA-degrading enzyme ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020407
更新日期:1977-10-01 00:00:00
abstract::The reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility. If confirmed, genetic association of this variant with PD may support molecular targeting of the UCHL1 gene and its product as a therape...
journal_title:Annals of neurology
pub_type: 杂志文章,meta分析
doi:10.1002/ana.20017
更新日期:2004-04-01 00:00:00
abstract::Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(200101)49:1<114::aid-ana18>3.0.c
更新日期:2001-01-01 00:00:00
abstract::A patient with generalized convulsions noted that seizures were reliably precipitated by mental arithmetic. The interictal electroencephalogram revealed only a mild, diffuse, nonspecific disturbance, but bursts of generalized epileptiform activity with no obvious clinical expression accompanied efforts at mental arith...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110609
更新日期:1982-06-01 00:00:00
abstract::Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain norm...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20168
更新日期:2004-08-01 00:00:00
abstract::Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10451
更新日期:2003-03-01 00:00:00
abstract::We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co
更新日期:1999-02-01 00:00:00
abstract:OBJECTIVE:Whether intracerebral hemorrhage (ICH) associated with non-vitamin K antagonist oral anticoagulants (NOAC-ICH) has a better outcome compared to ICH associated with vitamin K antagonists (VKA-ICH) is uncertain. METHODS:We performed a systematic review and individual patient data meta-analysis of cohort studie...
journal_title:Annals of neurology
pub_type: 杂志文章,meta分析
doi:10.1002/ana.25342
更新日期:2018-11-01 00:00:00
abstract::To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or 1 day after kainic acid was administered, and was continued th...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360314
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVE:The cellular and molecular mechanisms underlying magnetic resonance imaging-defined white matter (WM) changes associated with age-related cognitive decline remain poorly defined. We tested the hypothesis that WM lesions in older adults, defined by diffusion tensor imaging (DTI), arise in the setting of vascul...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22484
更新日期:2011-09-01 00:00:00
abstract::We recorded horizontal smooth-pursuit responses to sinusoidal and step-ramp stimuli in 7 patients with unilateral frontal lobe lesions. Five patients had directional smooth-pursuit deficits, all with impairment toward the side of cerebral damage. Ipsidirectional pursuit defects involved pursuit maintenance to sinusoid...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370406
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVES:African Americans are at greater risk for developing Alzheimer's disease (AD) dementia than non-Hispanic whites. In addition to biological considerations (eg, genetic influences and comorbid disorders), social and environmental factors may increase the risk of AD dementia. This paper (1) assesses neuroimagin...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25948
更新日期:2021-02-01 00:00:00
abstract::It is well recognized that plasma fluctuations resulting from oral levodopa therapy may cause an unstable clinical response in parkinsonian patients. We have therefore developed a slow-release polymer matrix system that can deliver levodopa continuously for extended periods of time (at least 225 days) after subcutaneo...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280519
更新日期:1990-11-01 00:00:00
abstract::Two family members with hereditary pressure-sensitive neuropathy are reported. One patient presented atypically with acute brachial plexus neuropathy following transaxillary removal of the first rib. Electrophysiological studies showed slowing of motor nerve conduction in clinically affected and unaffected nerves. In ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080613
更新日期:1980-12-01 00:00:00
abstract::Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24778
更新日期:2016-11-01 00:00:00