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. Efficacy of IVIG treatment was recently reported in a patient with LKS related to GRIN2A mutation. AIM AND METHODS:We describe the efficacy of Immunotherapy in 5 consecutive patients (4 males, age range 6 months-13 years) with molecularly confirmed GRIN-related epileptic encephalopathy (4 with GRIN2A- related epilepsy-aphasia spectrum/epileptic encephalopathy with CSWS, accompanied by verbal, communicative and behavioural regression, and one patient with GRIN2D - related infantile developmental-epileptic encephalopathy). All patients had global developmental delay/ intellectual disability in various degrees, and were resistant to anticonvulsants, but none of the patients had frequent clinical seizures. All patients received monthly infusion of IVIG 2 g/ kg for 6 months; 2 patients were also treated with high-dose corticosteroids. RESULTS:Normalization or near normalization of the EEG was noted in 3 patients, from whom 2 had mild improvement in verbal abilities and communication skills. Perceptual/spatial abilities, as well as executive functions and attention span, remained significantly impaired. CONCLUSION:according to this preliminary, open-label study, Immunotherapy may lead to a clinical and electrographic improvement in patients with GRIN-related developmental-epileptic encephalopathies. Further studies to validate the efficacy of immunotherapy and the potential role of autoimmunity in GRIN-related disorders are needed.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Hausman-Kedem M,Menascu S,Greenstein Y,Fattal-Valevski Adoi
10.1016/j.eplepsyres.2020.106325subject
Has Abstractpub_date
2020-07-01 00:00:00pages
106325eissn
0920-1211issn
1872-6844pii
S0920-1211(19)30566-2journal_volume
163pub_type
杂志文章abstract：:Depression is a frequent psychiatric symptom in epilepsy and has been related to epilepsy of temporal origin, especially of left-sided foci. No study differentiated the precise localization of the epileptogenic lesion within the temporal lobe. Regarding this issue, we evaluated depression assessed by the Beck Depressi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(99)00117-5
更新日期：2000-04-01 00:00:00
abstract：:The ideal proof-of-principle study design provides a strong efficacy signal over the shortest duration, while exposing the fewest patients possible. Data from a large database (Pfizer Inc) which studied add-on pregabalin for the treatment of partial seizures was used to model how duration of baseline, post-randomizati...
journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2013.04.008
更新日期：2013-09-01 00:00:00
abstract：PURPOSE:Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene. We aimed to analyze the relations between the clinical diagnosis and treatment of PDE and ALDH7A1 gene mutations in Chinese PDE patients. METHODS:The clinical manifestations, diagnosis and treatm...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.10.002
更新日期：2015-12-01 00:00:00
abstract：:Surgical treatment of mesial temporal lobe epilepsy (mTLE) patients involves the removal either of the left or the right hippocampus. Since the mesial temporal lobe is responsible for emotion recognition abilities, we aimed to assess facial emotion recognition (FER) in two homogeneous patient cohorts that differed onl...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2015.01.002
更新日期：2015-03-01 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：PURPOSE:Activation of the neurokinin-1 (NK1) receptor by neuropeptide substance P (SP) induces and maintains epileptic activity in various experimental models of epilepsy. The primary objective of this study was to investigate whether neurobiological changes linked to NK1-SP receptor system are associated with hyperexc...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.08.006
更新日期：2011-11-01 00:00:00
abstract：BACKGROUND:Epilepsy is among the more stigmatising diseases, leading to a negative impact on the quality of life (QoL) of people with epilepsy (PWE). Assessment of the QoL and stigma in PWE reflects the outcome of their disease, and the findings can be used to improve the management of epilepsy. To fill a gap in the li...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106437
更新日期：2020-11-01 00:00:00
abstract：:Benign myoclonic epilepsy in infancy is a rare syndrome with just over 100 cases reported since the first syndromic description by Dravet and Bureau [Dravet, C., Bureau, M., 1981. The benign myoclonic epilepsy of infancy. Rev. Elecroencephalogr. Neurophysiol. Clin. 11, 438-444]. This includes 23 infants with reflex my...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2006.01.014
更新日期：2006-08-01 00:00:00
abstract：BACKGROUND:EEG monitoring is important for the early detection of seizures during the course of critical illness. However, the logistics of real time EEG interpretation is challenging for the neurophysiology and critical care medicine teams. This study evaluated factors affecting the utility of digital trend analysis (...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.10.018
更新日期：2011-01-01 00:00:00
abstract：PURPOSE:We performed a retrospective study to investigate seizure, EEG, social and cognitive outcome in adult LGS subjects. METHODS:We retrospectively evaluated 27 LGS patients aged 40-59 years. We assessed in particular the evolution of different seizure types and EEG findings, as well as cognitive and social outcome...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.01.012
更新日期：2010-05-01 00:00:00
abstract：:A brief review of kindling is provided, which highlights some important points of historical interest often overlooked by researchers. These points include the fact that the original rating scale of convulsive seizures presented by Racine 'EEG Clin. Neurophysiol 32 (1972) 281'. was based on amygdala kindling, and may ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/s0920-1211(02)00071-2
更新日期：2002-06-01 00:00:00
abstract：PURPOSE:To study the extent and characteristics of dietary and herbal supplements use in a large cohort of adult patients with epilepsy. METHODS:This prospective study included 490 patients receiving care at a university epilepsy clinic. A number of variables, including demographics, characteristics of epilepsy and it...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106168
更新日期：2019-10-01 00:00:00
abstract：:Although memory, language, and executive functions have been extensively studied in patients with mesial temporal lobe epilepsy (MTLE), few investigations of the decision-making abilities of these patients have been performed. We studied implicit decision-making (decisions under ambiguity) in right and left MTLE patie...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.10.009
更新日期：2011-01-01 00:00:00
abstract：:Posttraumatic epilepsy is a common consequence of traumatic brain injury in humans. Major predictors for the development of posttraumatic epilepsy include the severity of injury and occurrence of cortical contusions. The effect of the size or location of the cortical lesion on the risk of epileptogenesis, however, is ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.03.007
更新日期：2010-06-01 00:00:00
abstract：PURPOSE:To use proton Magnetic Resonance Spectroscopy (MRS) to measure in vivo temporal lobe GABA and glutamate plus glutamine (GLX) concentrations in patients with temporal lobe epilepsy (TLE) attributable to unilateral hippocampal sclerosis (HS) before and following anterior temporal lobe resection (ATLR). METHODS:W...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.11.006
更新日期：2009-02-01 00:00:00
abstract：:We aim to investigate structural brain abnormalities in juvenile myoclonic epilepsy (JME) patients with photosensitivity (PS). Sixty JME patients, 19 (32%) of whom were photosensitive, were submitted to 1.5T magnetic resonance voxel-based morphometry (VBM). The control group (CTL) consisted of 30 sex-matched healthy v...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.05.016
更新日期：2009-10-01 00:00:00
abstract：:Pregabalin (PGB) is a new antiepileptic drug (AED) which is a structural, non-functional analogue of gamma-aminobutyric acid. It acts at presynaptic calcium channels to modulate neurotransmitter release in the CNS. While the efficacy and tolerability of PGB have been demonstrated in several randomised controlled trial...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.08.001
更新日期：2009-12-01 00:00:00
abstract：:A combination of temporo-limbic hyperperfusion and extratemporal hypoperfusion was observed during complex partial seizures (CPS) in temporal lobe epilepsy (TLE). To investigate the clinical correlate of perfusion changes in TLE, we analyzed focal seizures of increasing severity using voxel-based analysis of ictal SPE...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.03.020
更新日期：2009-08-01 00:00:00
abstract：:Evidence-based treatment guidelines and practice parameters have been developed in most areas of medicine. They are important because insurance companies, formulary managers, and health maintenance organizations rely on guidelines for formulary and coverage decisions. The methodology for practice parameter development...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2005.09.021
更新日期：2006-01-01 00:00:00
abstract：:Changes in EEG synchronization, i.e., spatio-temporal correlation, with amygdala-hippocampal stimulation were studied in patients with temporal lobe epilepsy. Synchronization was evaluated for high frequency, 130 Hz, pseudo-monophasic or biphasic charge-balanced pulses. Desynchronization was most frequently induced by...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.11.024
更新日期：2014-02-01 00:00:00
abstract：BACKGROUND:Polyunsaturated fatty acids have been reported to increase seizure threshold and to reduce seizure duration and severity in rats. OBJECTIVE:The purpose of the present study was to test the anticonvulsant effects of an essential fatty acid mixture containing linoleic and alpha-linolenic acids at a 4:1 ratio ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.05.011
更新日期：2006-09-01 00:00:00
abstract：:Four patients with complex partial seizure disorder whose positron emission tomography (PET) scans show sustained hyperperfusion of the epileptiform focus 12-24 h after a seizure episode are presented. Three of these patients underwent same day Fluorine-18 (18F) deoxyglucose (FDG) PET scans, which showed hypometabolis...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(00)00135-2
更新日期：2000-12-01 00:00:00
abstract：OBJECTIVE:Approximately 80% of glioma patients will experience at least one seizure activity during the course of the disease, and because the etiology of glioma-related seizure is most likely multifactorial and complex, it remains poorly understood. MicroRNAs are a class of small noncoding RNAs that function as critic...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.08.005
更新日期：2016-11-01 00:00:00
abstract：OBJECTIVE:Ictal activity itself can cause pathological cerebrospinal fluid (CSF) findings. However, data regarding pathological CSF findings caused by SE itself to date remain scarce. We here evaluated the frequency and specificity of pathological CSF findings in non-infectious SE. METHODS:We performed a retrospective...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.12.008
更新日期：2018-02-01 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：: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：:Involvement of opioid systems in the pathogenesis of absence epilepsy has been postulated. However, the role of the mu opioid receptor has not been fully elucidated as yet. In the present study the role of this receptor in absence epilepsy was investigated autoradiographically and pharmacologically. The density of mu ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00081-8
更新日期：1998-01-01 00:00:00
abstract：:The Fourth Eilat Conference on New Antiepileptic Drugs (AEDs) was held at the Royal Beach Hotel, Eilat, Israel, from 6th to 10th September 1998. Epileptologists and scientists from 20 countries attended the conference, which was held to discuss a number of issues in drug development, including outcome assessment in ep...
journal_title：Epilepsy research
pub_type：
doi：10.1016/s0920-1211(98)00108-9
更新日期：1999-03-01 00:00:00
abstract：:Multiple sclerosis (MS) patients are at higher risk for epilepsy. Epilepsy was frequent among our MS patients (6.55%). Progressive MS forms were associated with higher incidence of epilepsy (p=0.021). Partial motor seizures were observed in five patients (62.5%) and generalized tonic-clonic in three (37.5%). Electroen...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.01.009
更新日期：2009-04-01 00:00:00
abstract：:There are many difficulties involved with the treatment of epilepsy, and these problems have driven the search for new agents to control epileptic seizures. Calcitonin is a peptide hormone that has been well studied and shown to have a positive effect on neuropathic and chronic pain. The mechanism by which calcitonin ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.01.012
更新日期：2014-03-01 00:00:00
