Abstract：
:We describe the clinical and radiological features of a family with a homozygous mutation in TBC1D24. The phenotype comprised onset of focal seizures at 2 months with prominent eye-blinking, facial and limb jerking with an oral sensory aura. These were controllable with medication but persisted into adult life. Associated features were mild to moderate intellectual disability and cerebellar features. MRI showed subtle cortical thickening with cerebellar atrophy and high signal confined to the ansiform lobule. The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Afawi Z,Mandelstam S,Korczyn AD,Kivity S,Walid S,Shalata A,Oliver KL,Corbett M,Gecz J,Berkovic SF,Jackson GDdoi
10.1016/j.eplepsyres.2013.02.005subject
Has Abstractpub_date
2013-07-01 00:00:00pages
240-4issue
1-2eissn
0920-1211issn
1872-6844pii
S0920-1211(13)00043-0journal_volume
105pub_type
杂志文章abstract：:Huperzine A (HupA) is a naturally occurring compound found in the firmoss Huperzia serrata. While HupA is a potent acetylcholinesterase inhibitor, its full pharmacologic profile is incompletely described. Since previous works suggested a capacity for HupA to prophylax against seizures, we tested the HupA antiepileptic...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.08.012
更新日期：2015-11-01 00:00:00
abstract：:The role of N-methyl-D-aspartate (NMDA) in the development and expression of kindled seizures was assessed using a crossover design. Rats were stimulated once daily in the perforant path for 10 consecutive days 30 min following daily administration of saline or the NMDA antagonist MK-801 (1.0 mg/kg) (phase I). Five to...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90014-0
更新日期：1994-02-01 00:00:00
abstract：:Mutations of genes coding for ion channels cause several genetically determined human epileptic syndromes. The identification of a gene variant linked to a particular disease gives important information, but it is usually necessary to perform functional studies in order to completely disclose the pathogenic mechanisms...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2010.08.003
更新日期：2010-11-01 00:00:00
abstract：:The effects of a novel anticonvulsant, zonisamide (3-sulfamoylmethyl-1,2-benzisoxazole), on photically induced seizures were studied in the lateral geniculate-kindled cat. Zonisamide was found to reduce the behavioral severity of seizure responses to photic stimulation in a dose-related manner. This anticonvulsant eff...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90096-e
更新日期：1990-11-01 00:00:00
abstract：OBJECTIVE:To validate the Chinese version of the Generalized Anxiety Disorder-7 (GAD-7) in Chinese people with epilepsy (PWE). METHODS:A consecutive cohort of PWE from the West China Hospital was recruited. Each patient received a psychiatric evaluation comprising the Mini International Neuropsychiatric Interview (MIN...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.11.019
更新日期：2016-02-01 00:00:00
abstract：OBJECTIVE:To study the pregnancy outcomes, including obstetric complications and fetal outcomes, in pregnant women with epilepsy (WWE) treated with direct brain-responsive neurostimulation (RNS System). METHODS:Retrospective review of obstetric outcomes and fetal outcomes in WWE treated with the RNS System at nine com...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106532
更新日期：2021-01-01 00:00:00
abstract：PURPOSE:Cryptogenic focal epilepsy (CFE) is a heterogeneous clinical disorder including patients with severe refractory forms and patients with a fairly good prognosis. Predictors of prognosis in CFE are poorly understood. The aim of this retrospective study is to identify long-term (5-year) prognostic predictors in pa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.07.004
更新日期：2013-11-01 00:00:00
abstract：:This was an open-label study (N01281 [NCT00419393]) assessing the long-term safety of extended-release levetiracetam (LEV XR) in patients with partial-onset seizures (POS); the study was a follow-up to a double-blind, randomized, historical controlled, multicenter, conversion to monotherapy study (N01280 [NCT00419094]...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1016/j.eplepsyres.2015.11.017
更新日期：2016-02-01 00:00:00
abstract：:We report an interaction between lamotrigine (LTG), a new antiepileptic drug (AED), and carbamazepine (CBZ) and its primary metabolite CBZ-10,11-epoxide (CBZ-E) in 9 consecutive patients (5 male, 4 female, aged 19-31 years). After introduction of LTG (median daily dose 200 mg, range 100-300 mg) the mean serum CBZ-E co...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90049-y
更新日期：1992-04-01 00:00:00
abstract：:In rats with electrodes implanted in the hippocampus or amygdala, the effect was studied of a single episode of low frequency stimulation (125 msec, biphasic 4 Hz, for 1 min at a current 50% of threshold for after-discharge), LFS, on the after-discharge thresholds (ADTs) during the course of hippocampal and amygdaloid...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90029-6
更新日期：1989-05-01 00:00:00
abstract：:We planned this study to investigate the frequency of epilepsy in paralytic polio survivors. We analyzed the clinical data of 91 paralytic polio survivors. Patients who had been diagnosed with epilepsy were examined by electroencephalography and brain magnetic resonance imaging. 11 of the 91 patients had epilepsy (12%...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.08.019
更新日期：2012-01-01 00:00:00
abstract：:Multiple forms of the ketogenic diet (KD) have been successfully used to treat drug-resistant epilepsy, however its mainstream use as a first-line therapy is still limited. Further investigation into its clinical efficacy as well as the molecular basis of activity is likely to assist in the reversal of any resistance ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2011.04.017
更新日期：2012-07-01 00:00:00
abstract：:To clarify the mechanisms of the antiepileptic activity of phenytoin (PHI), the effects of PHT on extracellular and total levels of monoamines (dopamine and serotonin), in rat striatum and hippocampus were studied. The plasma concentrations of PHT associated with therapeutic activity did not affect striatal and hippoc...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00043-0
更新日期：1997-09-01 00:00:00
abstract：:Women with epilepsy have different needs from men, particularly associated with childbearing. Despite clinical guidelines, the care of women with epilepsy remains suboptimal. The aim of this study was to establish whether women with epilepsy recall being given information on topics relating to childbearing. Design of ...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/s0920-1211(02)00135-3
更新日期：2002-12-01 00:00:00
abstract：BACKGROUND:Millions of individuals worldwide suffer from epilepsy, and up to 25% of patients have seizures that are resistant to currently available antiepileptic drugs. Hence, there continues to be a need for more seizure medications that are effective yet tolerable. Levodropropizine (LVDP) is an established antitussi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.12.011
更新日期：2019-02-01 00:00:00
abstract：:The ketogenic diet (KD) increased the expression of calbindin-D(28k) (CB) in the interneurons of the hippocampus compared with the normal diet (ND)-fed mice. Also, 2 days after kainic acid (KA) administration, numerous CB-expressing astrocytes were found in the KD-fed mice compared with those of the ND-fed mice. These...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.05.008
更新日期：2005-07-01 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：:Mutations in genes encoding ion channels in brain neurons have been identified in various epilepsy syndromes. In neuronal networks, "gain-of-function" of channels in excitatory neurotransmission could lead to hyper-excitation while "loss-of-function" in inhibitory transmission impairs neuronal inhibitory system, both ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2005.12.007
更新日期：2006-08-01 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：OBJECTIVE:Using the gamma-butyrolactone (GBL) model of absence seizures in Long-Evans rats, this study investigated if 2.5-6 Hz paroxysmal discharges (PDs) induced by GBL were synchronized among the thalamocortical system and the hippocampus, and whether inactivation of the hippocampus affected PDs. METHODS:Local fiel...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.12.007
更新日期：2016-02-01 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：:Treatment with cytochrome P450 enzyme-inducing antiepileptic drugs (P450-inducing AEDs) is known to interfere with folate metabolism. Low folate status is of special concern in women with epilepsy who might become pregnant. Therefore, folate status was assessed in women age 16-42 treated for epilepsy. Staple food is n...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.04.003
更新日期：2007-06-01 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：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：: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：:We examined 1715 seizures recorded on a dedicated epilepsy inpatient ward over 363 days in 2006-2007. Epileptic seizures, particularly complex partial seizures are less likely to occur on bright sunny days, than dull days. This correlation remains stable when seasonal patterns are controlled for. Non-epileptic attacks...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.11.015
更新日期：2009-03-01 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：: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：:The subjects were 106 SMIDS with epilepsy. They were classified into four epileptic syndromes: (1) SE-MISF (34.0%), (2) SGE (25.5%), (3) SLRE (20.7%), and (4) epileptic discharge-free patients (EDFP) (19.8%). Clinical electroencephalographic studies elucidated the following result: (1) The seizure disappearance rate w...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.09.006
更新日期：2007-12-01 00:00:00
abstract：:Epilepsy - the world's most common serious brain disorder - is defined by recurrent unprovoked seizures that result from complex interactions between distributed neural populations. We explore some macroscopic characteristics of emergent ictal networks by considering intracranial recordings from human subjects with in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.02.002
更新日期：2008-05-01 00:00:00
