Abstract：
OBJECTIVE:We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS:Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. Genetic and clinical features and effectiveness of sodium channel blockers were assessed in patients who were confirmed with SCN8A mutations. RESULTS:The onset of seizures ranged from the neonatal period to 18 months of age. Seizure types were diverse and predominantly involved focal seizures or spasms. The most common initial epilepsy syndrome was West syndrome in four patients, followed by neonatal-onset focal seizures in three patients and unclassified focal epilepsy in two patients. Electroencephalograms (EEGs) showed slow and disorganized background and epileptiform abnormalities with occipital predominance. Six patients presented intractable seizures including one patient with recurrent nonconvulsive status epilepticus. Sodium channel blockers were effective in seven patients among eight patients given them. All patients showed developmental delay or regression. Severe hypotonia or ataxia was also presented in some patients. Microcephaly was also characteristic. De novo missense mutations in SCN8A were found in the inactivation gate, C-terminal, loop 2, and transmembrane segments (S1, 4, 5, and 6). There was no correlation between the location of the mutation in the protein and phenotype or response to sodium channel blockers. CONCLUSION:SCN8A developmental and epileptic encephalopathy presents intractable seizures including spasms, focal seizures, neonatal status epilepticus, and nonconvulsive status epilepticus. Sodium channel blockers were effective irrelevant to the location of the mutation in the protein.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Kim HJ,Yang D,Kim SH,Kim B,Kim HD,Lee JS,Choi JR,Lee ST,Kang HCdoi
10.1016/j.eplepsyres.2019.106222subject
Has Abstractpub_date
2019-12-01 00:00:00pages
106222eissn
0920-1211issn
1872-6844pii
S0920-1211(19)30305-5journal_volume
158pub_type
杂志文章abstract：:Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00049-6
更新日期：1995-11-01 00:00:00
abstract：:The purpose of the study was to evaluate the efficacy and safety of topiramate (TPM) as adjunctive therapy in children, adolescents and young adults with Lennox-Gastaut syndrome (LGS). We performed a prospective open label add-on study in 45 patients (age 4-34 years, mean 15.9 years) with LGS and refractory seizures. ...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1016/s0920-1211(02)00103-1
更新日期：2002-09-01 00:00:00
abstract：:Catamenial epilepsy is a multifaceted neuroendocrine condition in which seizures are clustered around specific points in the menstrual cycle, most often around perimenstrual or periovulatory period. Generally, a twofold or greater increase in seizure frequency during a particular phase of the menstrual cycle could be ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2009.02.017
更新日期：2009-07-01 00:00:00
abstract：:A single-dose study of the beta-carboline, ZK 95962, on photosensitive generalized paroxysmal activity in the EEG was conducted in 6 patients with primary generalized epilepsy. Four of the patients were newly diagnosed and did not receive any antiepileptic drug or other medication during the study. Two were receiving ...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0920-1211(90)90032-q
更新日期：1990-03-01 00:00:00
abstract：:The ketogenic diet (KD) remains a therapy in search of explanation although it is an established treatment of intractable epilepsy. Recent studies suggest that the KD may be both anticonvulsant and antiepileptogenic. Epileptic seizures have been shown to stimulate the proliferation rate of neuronal progenitor cells in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.11.010
更新日期：2008-02-01 00:00:00
abstract：PURPOSE:Clobazam (CLB, 1,5-benzodiazepine, 1,5-BZP) has been reported to show unique antiepileptic action profile distinguishing from standard 1,4-BZPs. To further elucidate the action profile of CLB, its effects on the abnormal circling fits (ACFs) and generalized tonic-clonic convulsions (GTCs) in Ihara epileptic rat...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(02)00032-3
更新日期：2002-05-01 00:00:00
abstract：:Evidence shows neurosteroids play a key role in regulating epileptogenesis. Neurosteroids such as testosterone modulate seizure susceptibility through its transformation to metabolites which show proconvulsant and anticonvulsant effects, respectively. Reduction of testosterone by aromatase generates proconvulsant 17-β...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.04.004
更新日期：2018-07-01 00:00:00
abstract：:Seizures induced by the convulsant methionine sulfoximine (MSO) resemble human "grand mal" epilepsy, and brain glutamine synthetase is inhibited. We recently selected two inbred lines of mice: sensitive to MSO (MSO-Fast) and resistant (MSO-Slow). In the present study, the selection pressure was increased and consangui...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.08.012
更新日期：2012-01-01 00:00:00
abstract：OBJECTIVES:Patients with epilepsy have excess morbidity and mortality due to ischemic cardiovascular disease. Many of these patients have elevated concentrations of plasma total homocysteine (Hcy), which is an acknowledged risk factor for cardiovascular disease, venous thromboembolic disease, foetal malformations and d...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.06.003
更新日期：2008-11-01 00:00:00
abstract：:The behavioral and EEG concomitants of kindling produced by daily electrical stimulation of the inferior colliculus have been recorded in three series of Wistar rats: (1) non epileptic controls (NE), (2) rats susceptible to audiogenic seizures (AS), (3) acoustically susceptible rats with prior kindling of audiogenic s...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90093-m
更新日期：1993-06-01 00:00:00
abstract：:Early neuropsychological changes following partial anterior callosotomy were evaluated in 15 patients with epilepsy (10 secondary generalized and 5 Lennox-Gastaut syndromes) by comparing their performances 1 month before surgery and then 15-20 and 90-100 days postoperatively without modifying the anticonvulsant treatm...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90091-9
更新日期：1990-07-01 00:00:00
abstract：:Freeze-lesion-induced focal cortical dysplasia in rats closely resembles human microgyria, a neuronal migration disorder associated with drug-resistant epilepsy. Alterations in expression of N-methyl-D-aspartate receptors (NMDARs) containing NR2B subunits have been suggested to play a role in the hyperexcitability see...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.07.013
更新日期：2006-12-01 00:00:00
abstract：:The characteristics of evoked potentials in patients with dentatorubral-pallidoluysian atrophy (DRPLA) were investigated. Twelve patients with DRPLA and three patients with progressive myoclonic epilepsy (PME) attributable to other causes participated in the study. In 11 out of the 12 patients, the diagnosis of DRPLA ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(99)00028-5
更新日期：1999-10-01 00:00:00
abstract：:The aim of the present study was to evaluate the risk of intrauterine growth delay in the offspring of epileptic mothers and to quantify the risks of intrauterine exposure to antiepileptic drugs (AEDs). Data concerning 870 newborns, prospectively collected in Canada, Japan and Italy, using the same study design, were ...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/s0920-1211(99)00020-0
更新日期：1999-08-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to investigate whether there may be a correlation between the anatomical variants of Circle of Willis (CoW) and presence/laterality of mesial temporal sclerosis (MTS). METHODS:We retrospectively identified the CoW variants on Wada angiograms in 71 patients with pathologically proven...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.02.017
更新日期：2017-05-01 00:00:00
abstract：PURPOSE:To characterize gabapentin pharmacokinetics in infants and children using a population approach and to identify important demographic and/or physiologic determinants of gabapentin disposition. METHODS:Gabapentin was administered in single doses of 10 mg/kg (N=48 healthy subjects, age 1 month-12 years) or in mu...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/s0920-1211(01)00311-4
更新日期：2001-12-01 00:00:00
abstract：SUMMARY:Stereotactic radiofrequency amygdalohippocampectomy (AHE) has been reintroduced as an alternative treatment of mesial temporal lobe epilepsy. The aim of this study was to describe MRI changes after stereotactic AHE and to correlate the hippocampal and amygdalar volumes reduction with the clinical seizure outcom...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/j.eplepsyres.2008.11.013
更新日期：2009-02-01 00:00:00
abstract：:An earlier pharmacodynamic study of the chiral antiepileptic drug stiripentol in an intravenous pentylenetetrazol-induced seizure model in the rat showed the development of a significant degree of tolerance to the anticonvulsant and neurotoxic effects following subacute treatment with the racemic compound. A more rece...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90001-9
更新日期：1994-06-01 00:00:00
abstract：:The ketogenic diet has been used to treat intractable epilepsy for many years, yet the mechanism(s) underlying its effectiveness have not been completely elucidated. However, emerging evidence indicates that the ketogenic diet may correct or otherwise alter a 'dystopic' gut microbiota that exhibits altered fecal micro...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2020.106409
更新日期：2020-10-01 00:00:00
abstract：:The parameters of pentylenetetrazol (PTZ)-induced seizures have been evaluated at various time intervals after lipopolysaccharide (LPS; Escherichia coli O111:B4, 100 microg/kg, i.p.) administration in mice. A proconvulsant effect occurred 4h after LPS injection with decreased seizure latency and enhanced seizure inten...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.06.009
更新日期：2006-10-01 00:00:00
abstract：PURPOSE:To retrospectively analyze the electroclinical features, etiology, treatment and prognosis of 117 patients with encephalopathy with status epilepticus during sleep (ESES) or continuous spike and waves slow sleep (CSWSS) syndrome with a long-term follow-up. METHODS:Charts of 117 patients with ESES/CSWSS syndrom...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2013.02.010
更新日期：2013-07-01 00:00:00
abstract：BACKGROUND:GRIN-related developmental-epileptic encephalopathies are associated with a spectrum of neurodevelopmental disorders, including intellectual disability, epilepsy including continuous spike-and-wave during sleep syndrome (CSWS), or epilepsy-aphasia spectrum phenotypes such as in Landau-Kleffner syndrome. Effi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106325
更新日期：2020-07-01 00:00:00
abstract：:A battery of psychometric tests was administered to 110 patients with epilepsy and to 24 non-epileptic controls. Eighty-four patients had been established on treatment with a single anticonvulsant drug (35 carbamazepine (CBZ), 30 sodium valproate (VPA), 19 phenytoin (PHT)) at unaltered dosage for the previous 3 months...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90018-q
更新日期：1990-12-01 00:00:00
abstract：:The new antiepileptic drug zonisamide was evaluated in a European multicenter parallel-group double-blind trial as add-on treatment for 139 patients with refractory partial epilepsy. During treatment with zonisamide complex partial seizures decreased by 27.7% compared to placebo (P < 0.05) and the median rate dropped ...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0920-1211(93)90011-u
更新日期：1993-05-01 00:00:00
abstract：PURPOSE:To evaluate the efficacy and safety of stiripentol as add-on therapy in Japanese patients with Dravet syndrome treated with clobazam (CLB) and valproate (VPA). METHODS:In this open-label study, patients aged 1-30 years entered a 4-week baseline phase, followed by a 4-week stiripentol dose-adjustment and 12-wee...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/j.eplepsyres.2014.02.008
更新日期：2014-05-01 00:00:00
abstract：:The objective of the study was to explore clinical, electroencephalography (EEG), neuropsychological features and prognosis of myoclonic-astatic epilepsy (MAE). Of 327 children aged between 1 and 9 years with a diagnosis of generalized epilepsy followed between 2000 and 2008, 18 (5.5%) had MAE. Male significantly pred...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.07.021
更新日期：2011-11-01 00:00:00
abstract：:Tiagabine is a novel antiepileptic drug which has clinical efficacy against complex refractory and myoclonic seizures. The anticonvulsant mechanism of action of tiagabine results from its blockade of neuronal and glial GABA-uptake, thereby increasing GABA levels in the synaptic cleft. Here we present a comparison of t...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00031-4
更新日期：1997-07-01 00:00:00
abstract：INTRODUCTION:Rolandic epilepsy (RE) is an idiopathic focal childhood epilepsy with a well-established neuropsychological profile of language impairment. The aim of this study is to provide a functional correlate that links rolandic (sensorimotor) pathology to language problems using functional MRI. MATERIALS AND METHO...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.10.008
更新日期：2013-12-01 00:00:00
abstract：:Food intake triggers convulsions in fasted mice and rats treated with antimuscarinic drugs, scopolamine or atropine. Most of the drugs produced anticonvulsant efficacy in these convulsions have sedative effects. Thus, the present study was performed to evaluate the contribution of sedation in the suppression of convul...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.10.011
更新日期：2010-03-01 00:00:00
abstract：:Plasma total homocysteine (p-tHcy), serum folate (s-F), serum vitamin B-12 (s-B12) and plasma pyridoxal-5'-phosphate (p-PLP) were measured in epileptic children before and after a 20-week period of sodium valproate (group A, n=32) and carbamazepine (group B, n=20) monotherapy. P-tHcy significantly increased in both gr...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.06.015
更新日期：2006-10-01 00:00:00
