Abstract：
OBJECTIVE:We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS:We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. RESULTS:In 103 (37.1%) of the 278 patients with DEE, 35 different disease-causing monogenic mutations were identified. The diagnostic yield was higher among patients who were younger at seizure onset, especially those whose seizures started during the neonatal period, and in patients with drug-resistant epilepsy. According to epilepsy syndromes, the diagnostic yield was the highest among patients with West syndrome (WS) with a history of neonatal seizures and mutations in KCNQ2 and STXBP1 were most frequently identified. On the basis of genotypes, we evaluated the clinical progression and seizure outcomes with specific therapeutic regimens; these were similar to those reported previously. In particular, sodium channel blockers were effective in patients with mutations in KCNQ2 and SCN2A in infancy, as well as SCN8A, and interestingly, the ketogenic diet also showed diverse efficacy for patients with SCN1A, CDKL5, KCNQ2, STXBP1, and SCN2A mutations. Unfortunately, quinidine was not effective in 2 patients with migrating focal epilepsy in infancy related to KCNT1 mutations. CONCLUSION:Targeted gene-panel sequencing is a useful diagnostic tool for DEE in children, and genotype-phenotype correlations are helpful in anticipating the clinical progression and treatment efficacy among these patients.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Ko A,Youn SE,Kim SH,Lee JS,Kim S,Choi JR,Kim HD,Lee ST,Kang HCdoi
10.1016/j.eplepsyres.2018.02.003subject
Has Abstractpub_date
2018-03-01 00:00:00pages
48-55eissn
0920-1211issn
1872-6844pii
S0920-1211(17)30615-0journal_volume
141pub_type
杂志文章abstract：:Simultaneous electroencephalography-transcranial magnetic stimulation (EEG-TMS) investigates cortical reactivity to external perturbations. TMS evoked potentials (TEPs) have been described in normals during sleep and wake but not after sleep deprivation or in pathologically enhanced excitability, i.e., epilepsy. The a...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.05.015
更新日期：2011-09-01 00:00:00
abstract：:Seizures that occur during early development are associated with adverse neurodevelopmental outcomes. Causation and mechanisms are currently under investigation. Induction of an early life seizure by kainic acid (KA) in immature rats on post-natal day (P) 7 results in behavioral changes in the adult rat that reflect s...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106283
更新日期：2020-03-01 00:00:00
abstract：BACKGROUND:Asymmetry of hippocampal internal architecture (HIA) clarity has been suggested to be a sign of hippocampal sclerosis (HS) and is frequently associated with other MRI findings of HS. The goal of this work is to use a previously developed HIA visual scoring system (Ver Hoef et al., 2013) to quantify HIA asymm...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.05.008
更新日期：2013-09-01 00:00:00
abstract：:Nonconvulsive status epilepticus (NCSE) is difficult to diagnose but is an important cause of cognitive impairment. Electroencephalogram (EEG) monitoring is required for diagnosis and treatment. Little is known regarding the stability of subclinical epileptiform discharges (SEDs) preceding NCSE nor what strategies may...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(02)00107-9
更新日期：2002-09-01 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：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：INTRODUCTION:Prior research has shown that people with epilepsy are at risk for a poorer health-related quality of life (HRQOL). However, patients differ greatly in how well they adjust to their epilepsy. To better understand these differences, the present study examined the role of personality. More specifically, we e...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106251
更新日期：2020-01-01 00:00:00
abstract：:In control rats, we examined the effects of ketogenic diet on NKCC1 and KCC2 expression levels in hippocampus. Neither the number of NKCC1 immunoreactive cells nor the intensity of labeling of KCC2 was found to modify in hippocampus of the rats after ketogenic diet treatment. These results indicate that ketogenic diet...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.05.017
更新日期：2011-09-01 00:00:00
abstract：BACKGROUND:When pharmacotherapy for epilepsy fails, surgical options, although efficacious, are highly invasive. We explored whether ablation of the cerebral cortex can be performed utilizing the cerebral venous system. METHODS:Mapping and radiofrequency ablation was performed via the venous system in two pigs. RESUL...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.03.023
更新日期：2008-08-01 00:00:00
abstract：:Although accumulating evidence indicates that the immunomodulatory medication thalidomide exerts anticonvulsant properties, the mechanisms underlying such effects of thalidomide are still unknown. Our previous preclinical study suggested that nitric oxide (NO) signaling may be involved in the anticonvulsant effects of...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106362
更新日期：2020-08-01 00:00:00
abstract：:Temporal lobe epilepsy (TLE) has been modeled in mice using pilocarpine induction, with variable results depending on specific strains. To allow efficient xenotransplantation for the purpose of optimizing potential cell-based therapy of human TLE, we have determined the optimal dosing strategy to produce spontaneous r...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.10.016
更新日期：2015-01-01 00:00:00
abstract：:The distribution and kinetics of specific binding sites for gamma-hydroxybutyrate (GHB), a naturally occurring compound known to produce absence-like seizures, was studied in the brains of Wistar rats with spontaneous, bilaterally synchronous spike wave discharges (SWDs), a model of petit mal epilepsy, and non-epilept...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90097-f
更新日期：1990-11-01 00:00:00
abstract：:Here we describe a new non-human primate model of temporal lobe epilepsy (TLE) to better investigate the cause/effect relationships of human TLE. Status epilepticus (SE) was induced in adult marmosets by pilocarpine injection (250mg/kg; i.p.). The animals were divided in 2 groups: acute (8h post-SE) and chronic (3 and...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.04.015
更新日期：2011-09-01 00:00:00
abstract：:The effects of GABA uptake inhibitors, SKF 89976A and SKF 100330A, on recurrent inhibition were studied in the rat hippocampal slice preparation by the antidromic-orthodromic stimulation test. Population spikes evoked orthodromically by stimulation of the stratum radiatum and recorded in the CA1 pyramidal cell body la...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90026-4
更新日期：1993-10-01 00:00:00
abstract：BACKGROUND:Benign childhood epilepsy with centro-temporal spikes (BECCT) is usually associated with anteriorly oriented rolandic discharges. We report an unusual type of childhood-onset epilepsy with sensorimotor seizures associated with posteriorly oriented rolandic discharges. METHODS:Among 942 patients who underwen...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.01.012
更新日期：2009-04-01 00:00:00
abstract：:Five oral formulations of valproic acid (VPA)/divalproex sodium are approved and commonly used in the US for treatment of epilepsy, mania/bipolar disorder and migraine prophylaxis. These formulations have unique pharmacokinetic and formulation characteristics and are designed to treat distinct patient populations. We ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.11.005
更新日期：2007-03-01 00:00:00
abstract：:Two hundred and thirty-five patients suffering from newly diagnosed epilepsy were randomly allocated to treatment with either oxcarbazepine or carbamazepine in a double-blind multi-centre study. After a titration phase (between 4 and 8 weeks), the optimal individual dose of trial medication was determined and treatmen...
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(89)90070-3
更新日期：1989-01-01 00:00:00
abstract：:We evaluated the efficacy of vagus nerve stimulation (VNS) in Genetic Absence Epilepsy Rats from Strasbourg (GAERS), a validated model for absence epilepsy. In the first experiment, we investigated whether VNS applied at seizure onset can interrupt spike and wave discharges (SWD). In the second experiment, we investig...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.04.005
更新日期：2004-04-01 00:00:00
abstract：PURPOSE:To identify consistent results of voxel-based morphometry (VBM) studies in unilateral refractory temporal lobe epilepsy (TLE). METHODS:Whole-brain VBM studies comparing refractory TLE patients with healthy controls (HC) were systematically searched in PubMed, ISI Web of Science, Embase, and Medline databases f...
journal_title：Epilepsy research
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.eplepsyres.2011.10.002
更新日期：2012-02-01 00:00:00
abstract：PURPOSE:In patients with left temporal lobe epilepsy (TLE) due to hippocampal sclerosis (HS) decreased naming ability is common, suggesting a critical role for the medial left temporal lobe in this task. We investigated the integrity of language networks with functional MRI (fMRI) in controls and TLE patients. EXPERIM...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.04.007
更新日期：2011-08-01 00:00:00
abstract：:Clinical and epidemiological studies have repeatedly demonstrated that a subset of patients with epilepsy have progressive syndromes with increasing seizure frequency and cumulative adverse effects despite optimal anticonvulsant therapy. Recent longitudinal imaging studies and long-term neuropsychological studies have...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2004.07.001
更新日期：2004-07-01 00:00:00
abstract：:Bupropion, a unique, non-nicotine smoking cessation aid and an effective antidepressant, is well known to produce seizures following overdosing in humans. However, the experimental background for the usefulness of antiepileptic drugs in the protection against bupropion-induced convulsions has not been established yet....
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.01.006
更新日期：2005-03-01 00:00:00
abstract：BACKGROUND:Due to pharmacoresistant seizures and the underutilization of surgical treatments, a large number of temporal lobe epilepsy (TLE) patients experience seizures for years or decades. The goal of this study was to generate a predictive model of duration of disease with the least number of parameters possible in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.12.006
更新日期：2015-02-01 00:00:00
abstract：BACKGROUND:Large administrative databases may prove useful to assess epilepsy-related comorbidity and mortality. Despite their increased use, their validity as data source in epilepsy is yet under-ascertained. METHODS:Achmea is a large Dutch health insurance company covering about 25% of the population. We performed a...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.11.019
更新日期：2018-01-01 00:00:00
abstract：:Results of previous studies suggested that the brainstem participates in amygdaloid (AM) kindled seizure generalization and the positive transfer effect at the secondary site AM. This study was undertaken to define the role of the brainstem in the patterning of AM kindling, the maintenance of AM kindled seizure and th...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00068-5
更新日期：1998-01-01 00:00:00
abstract：:The intracarotid amobarbital procedure (IAP) was attempted in 22 pediatric epilepsy surgery candidates, ages 5-12 years old. With extra pre-test teaching and emotional preparation, adjusted amobarbital dosage for younger patients, and simplified test items tailored to the child's abilities, language and memory testing...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90061-b
更新日期：1993-07-01 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：:Dapsone (4,4'-diaminodiphenyl sulfone; DDS), an established anti-leprosy drug, showed anticonvulsive effects in the amygdaloid kindling model of epilepsy. Single doses of the drug in rats (6.25-12.5 mg/kg, i.p.) suppressed the kindled seizures in a dose-dependent manner without overt behavioral toxicity. With repeated...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(91)90001-v
更新日期：1991-11-01 00:00:00
abstract：:Vigabatrin increases GABA concentrations by inhibiting GABA transaminase. In previous studies, it was shown that vigabatrin increases the incidence of Spike and Wave Discharges (SWD) in the WAG/Rij rat model for absence epilepsy. Since following a single dose of vigabatrin GABA concentrations are known to be increased...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106379
更新日期：2020-09-01 00:00:00
abstract：:Lithium is still the mainstay in the treatment of affective disorders as a mood stabilizer. Lithium also shows some anticonvulsant properties. While the underlying mechanisms of action of lithium are not yet exactly understood, we used a model of clonic seizure induced by pentylenetetrazole (PTZ) in male NMRI mice to ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.02.001
更新日期：2010-05-01 00:00:00
