Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

abstract：PURPOSE:The astrocytic enzyme glutamine synthetase (GS) is a key regulator of glutamate and γ-aminobutyric acid (GABA) metabolism in the glutamate/glutamine cycle (GGC). Inhibition of GS results in changes of neurotransmitter release and recycling. However, little is known about the influence of GGC on neurotransmitter...

journal_title：Epilepsia

authors： Cremer CM,Bidmon HJ,Görg B,Palomero-Gallagher N,Escobar JL,Speckmann EJ,Zilles K

更新日期：2010-08-01 00:00:00

abstract：:We examined the seizure records of 13 patients (nine men and four women, ages 27-50 years) with intractable partial epilepsy, maintained with steady anti-epileptic drug dosages. Patients recorded daily seizure frequency on calendars. Periods of outpatient observation ranged from 99 to 1,710 days and the number of obse...

journal_title：Epilepsia

authors： Balish M,Albert PS,Theodore WH

更新日期：1991-09-01 00:00:00

abstract：OBJECTIVE:Autoantibodies against glutamic acid decarboxylase (GAD) and the voltage-gated potassium channel (VGKC) complex are associated with distinct subtypes of limbic encephalitis regarding clinical presentation, response to therapy, and outcome. The aim of this study was to investigate white matter changes in these...

journal_title：Epilepsia

authors： Wagner J,Schoene-Bake JC,Witt JA,Helmstaedter C,Malter MP,Stoecker W,Probst C,Weber B,Elger CE

更新日期：2016-03-01 00:00:00

abstract：PURPOSE:Lennox-Gastaut syndrome (LGS) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and cognitive impairment. LGS can occur in apparently healthy subjects or in patients with preexisting brain damage. The...

journal_title：Epilepsia

authors： Ferlazzo E,Adjien CK,Guerrini R,Calarese T,Crespel A,Elia M,Striano P,Gelisse P,Bramanti P,di Bella P,Genton P

更新日期：2009-06-01 00:00:00

abstract：:Continuous, generalized 2.5 to 3.5-Hz spike-wave (SW) discharges were evident in an EEG performed 13 h after a first seizure associated with a viral illness, in an 8-year-old girl. On eye opening, the EEG abnormality was suppressed and replaced by delta activity and brief spike-wave paroxysms. No alteration in conscio...

journal_title：Epilepsia

authors： Gökyiğit A,Calişkan A

更新日期：1995-02-01 00:00:00

abstract：:Ten regularly menstruating women with epilepsy were studied in a 12-month prospective follow-up study to evaluate the short-term effects of carbamazepine (CBZ) on serum sex hormone balance and pituitary function. Thirteen female epilepsy patients receiving long-term CBZ monotherapy (mean medication duration 5.3 years)...

journal_title：Epilepsia

authors： Isojärvi JI

更新日期：1990-07-01 00:00:00

abstract：:Since the clinical data have been equivocal in regard to the effects of clonazepam (CZP) in focal-motor seizures, an alumina gel monkey model was used to evaluate quantitatively its efficacy with respect to this seizure category. The insolubility of CZP and its short biological half-life in monkey necessitated its eva...

journal_title：Epilepsia

authors： Lockard JS,Levy RH,Congdon WC,DuCharme LL,Salonen LD

更新日期：1979-12-01 00:00:00

abstract：:There is little evidence to guide the choice of intravenous anesthetic agent to treat refractory status epilepticus but midazolam, propofol, and barbiturates are widely used. It is impractical to use inhalational anesthetic agents in most circumstances and there is little experience with non-GABA-ergic agents such as ...

journal_title：Epilepsia

authors： Smith M

更新日期：2011-10-01 00:00:00

abstract：:The pathogenesis of neurogenic pulmonary edema has been debated for many years. Whether cardiogenic mechanisms and increased pulmonary vascular pressures are primary or even necessary for the production of pulmonary edema has been argued. We used postictal pulmonary edema to study this problem in a sheep model of neur...

journal_title：Epilepsia

authors： Johnston SC,Darragh TM,Simon RP

更新日期：1996-05-01 00:00:00

abstract：PURPOSE:Benign rolandic epilepsy (BRE) is considered a genetically determined idiopathic partial epilepsy. We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology. MET...

journal_title：Epilepsia

authors： Vadlamudi L,Kjeldsen MJ,Corey LA,Solaas MH,Friis ML,Pellock JM,Nakken KO,Milne RL,Scheffer IE,Harvey AS,Hopper JL,Berkovic SF

更新日期：2006-03-01 00:00:00

abstract：:Clinical features of seizures occurring in a neurofibromatosis clinic population were examined in a retrospective study. Twenty-two individuals in a population of 359 persons with neurofibromatos 1 (NF1) had had one or more seizures. Age at first seizure ranged from 4 days to > 20 years. Patients were classified into ...

journal_title：Epilepsia

authors： Korf BR,Carrazana E,Holmes GL

更新日期：1993-07-01 00:00:00

abstract：:Development of new excitatory connectivity and decreases in γ-aminobutyric acid (GABA)ergic inhibition are mechanisms underlying posttraumatic epileptogenesis in animal models. Experimental strategies that interfere with these processes, applied between the trauma and seizure onset, are antiepileptogenic in the labora...

journal_title：Epilepsia

authors： Prince DA,Parada I,Li H,McDonald W,Graber K

更新日期：2010-12-01 00:00:00

abstract：:The clinical presentation of 366 children with rolandic spikes was examined to determine whether the presence of a temporal-frontal dipole field is associated with a lower incidence of clinical abnormality. Comparisons were made between the clinical presentation of 99 children with temporal-frontal dipole discharges v...

journal_title：Epilepsia

authors： Gregory DL,Wong PK

更新日期：1992-01-01 00:00:00

abstract：:Studies from several countries have reported that fewer people with epilepsy marry, but the reasons for this are not clear. In the present investigation, 178 adults with epilepsy were divided into married, separated/divorced, and never married groups. The never married group was subdivided into persons living in depen...

journal_title：Epilepsia

authors： Batzel LW,Dodrill CB

更新日期：1984-10-01 00:00:00

abstract：:We report a surgically treated case of early infantile epileptic encephalopathy (EIEE) with suppression-bursts associated with focal cortical dysplasia. Tonic-clonic seizures followed by a series of spasms occurred about a hundred times a day at a few days of age. Interictal electroencephalogram (EEG) revealed a suppr...

journal_title：Epilepsia

authors： Komaki H,Sugai K,Sasaki M,Hashimoto T,Arai N,Takada E,Maehara T,Shimizu H

更新日期：1999-03-01 00:00:00

abstract：PURPOSE:To evaluate the demographic impact of epilepsy a rural area of Africa. METHODS:A cohort study was conducted between 1991 and 2001 in the Mbam Valley (Cameroon) on two groups of subjects (one of persons with epilepsy, and the other of control individuals matched for sex, age, and village of residence). At the e...

journal_title：Epilepsia

authors： Kamgno J,Pion SD,Boussinesq M

更新日期：2003-07-01 00:00:00

abstract：PURPOSE:The pineal hormone melatonin has been shown to enhance hippocampal excitability. We therefore investigated whether inactivation of hippocampal melatonin receptors affects behavioral seizures. METHODS:Intrahippocampal infusions were performed in rats to study the effect of different melatonin receptor antagonis...

journal_title：Epilepsia

authors： Stewart LS,Leung LS

更新日期：2005-04-01 00:00:00

abstract：OBJECTIVE:Children with rolandic spikes may or may not have seizures, ranging from benign rolandic epilepsy to severe atypical rolandic epilepsy. We investigated whether ripples (80-250 Hz), superimposed on rolandic spikes in surface electroencephalography (EEG), can differentiate between different entities. METHODS:I...

journal_title：Epilepsia

authors： van Klink NE,van 't Klooster MA,Leijten FS,Jacobs J,Braun KP,Zijlmans M

更新日期：2016-07-01 00:00:00

abstract：:Twenty-seven epileptic patients, most from low socioeconomic groups and aged 15-54 years, were studied for effects of prolonged anticonvulsant medication. They had received the usual doses of phenobarbitone and diphenylhydantoin (PHT) regularly for 3-32 years, with control of seizures, and had not taken any B-vitamins...

journal_title：Epilepsia

authors： Dastur DK,Dave UP

更新日期：1987-03-01 00:00:00

abstract：PURPOSE:Our goal was to study the anticonvulsant action of tiagabine (TGB) at different levels of brain maturation in rats. METHODS:Wistar rats in five age groups (7, 12, 18, 25, and 90 days old) were injected intraperitoneally with TGB at doses of 0.5-32 mg/kg. Thirty minutes later, motor seizures were induced by the...

journal_title：Epilepsia

authors： Haugvicová R,Skutová M,Kubová H,Suchomelová L,Mares P

更新日期：2000-11-01 00:00:00

abstract：:It is unclear whether the outcome of status epilepticus (SE), a neurological emergency associated with high mortality and morbidity, has changed over the past decade. We investigated the difference in prognosis (mortality, functional status at discharge) after adult SE episodes in a large registry between 2 time point...

journal_title：Epilepsia

authors： Fatuzzo D,Novy J,Rossetti AO

更新日期：2018-07-01 00:00:00

abstract：:Pyramidal cell densities in various regions of the anterior and posterior hippocampal formation were measured from en bloc temporal lobe resections and compared with presurgical stereoelectroencephalography (SEEG) data derived from depth electrodes in 12 patients with temporal lobe epilepsy. These data were compared w...

journal_title：Epilepsia

authors： Babb TL,Lieb JP,Brown WJ,Pretorius J,Crandall PH

更新日期：1984-12-01 00:00:00

abstract：:Quality of life (QOL) must be determined from the patients' subjective viewpoint. To determine QOL in epilepsy, it is necessary to use disease-specific scales. We introduced the Side Effects and Life Satisfaction (SEALS) scale to Japan and performed a comparative study on adult patients with epilepsy and normal subjec...

journal_title：Epilepsia

authors： Kugoh T

更新日期：1996-01-01 00:00:00

abstract：:The endocannabinoid system has gained attention as an important modulator of activity in the central nervous system. Initial studies focused on cannabinoid receptor 1 (CB1), which is widely expressed in the brain, but recent work also implicates cannabinoid receptor 2 (CB2) in modulating neuronal activity. Both recept...

journal_title：Epilepsia

authors： Rowley S,Sun X,Lima IV,Tavenier A,de Oliveira ACP,Dey SK,Danzer SC

更新日期：2017-12-01 00:00:00

abstract：:The antiepileptic properties of carbamazepine (Tegretol) and clonazepam (Rivotril) were compared in a double-blind randomized study comprising 36 patients with newly diagnosed, untreated psychomotor epilepsy (partial seizures with complex symptomatology). No significant differences were found between the two drugs dur...

journal_title：Epilepsia

authors： Mikkelsen B,Berggreen P,Joensen P,Kristensen O,Køhler O,Mikkelsen BO

更新日期：1981-08-01 00:00:00

abstract：:Spontaneously epileptic rats (SER) are a double mutant (zi/zi, tm/tm) spontaneously exhibiting both tonic and absence-like seizures. We examined the long-term effects of continual intake of phenobarbital (PB) on SER as a method of assessing long-term evaluation of antiepileptic drugs (AEDs). Food pellets containing 0....

journal_title：Epilepsia

authors： Serikawa T,Kogishi K,Yamada J,Ohno Y,Ujihara H,Fujita Y,Sasa M,Takaori S

更新日期：1990-01-01 00:00:00

abstract：PURPOSE:Traumatic brain injury has long been known to be a cause of epilepsy. Most information on risk factors for developing posttraumatic seizures is from before computed tomography (CT) scanning became universal. This article looks at factors about the injury or individual that put people at especially high risk of ...

journal_title：Epilepsia

authors： Temkin NR

更新日期：2003-01-01 00:00:00

abstract：:The incidence of epilepsy and of all unprovoked seizures was determined for residents of Rochester, Minnesota U.S.A. from 1935 through 1984. Age-adjusted incidence of epilepsy was 44 per 100,000 person-years. Incidence in males was significantly higher than in females and was high in the first year of life but highest...

journal_title：Epilepsia

authors： Hauser WA,Annegers JF,Kurland LT

更新日期：1993-05-01 00:00:00

abstract：:Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 ...

journal_title：Epilepsia

authors： Trivisano M,Ferretti A,Bebin E,Huh L,Lesca G,Siekierska A,Takeguchi R,Carneiro M,De Palma L,Guella I,Haginoya K,Shi RM,Kikuchi A,Kobayashi T,Jung J,Lagae L,Milh M,Mathieu ML,Minassian BA,Novelli A,Pietrafusa N,T

更新日期：2020-07-01 00:00:00

abstract：:Epilepsy syndromes occupy an important position in the current nosology of the epilepsies, describing and classifying seizure disorders with shared clinical and EEG features. Increasingly, this schema is being refined as new information becomes available and our understanding of etiology and presentation of each syndr...

journal_title：Epilepsia

authors： Duchowny M,Harvey AS

更新日期：1996-01-01 00:00:00