Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a 17-year-old boy with a left extraventricular temporo-mesial neurocytoma associated with cortical dysplasia causing focal pharmacoresistant temporal lobe epilepsy. He presented with a long history of medically refractory, temporal complex partial seizures. MRI showed a left temporo-mesial lesion suspect to be a low-grade tumor. Based on the pre-operative non-invasive neurophysiological studies, the patient underwent a left tailored temporal antero-mesial resection. Histopathological examination showed an extraventricular neurocytoma associated with architectural dysplasia (Type 1a) of the temporal pole. The patient was seizure-free at 2 years follow-up. Extraventricular neurocytomas must be considered in the differential diagnosis of the plethora of low-grade tumors associated with focal epilepsy that typically involve the temporal lobe, and are frequently associated with focal cortical dysplasia.
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PMID:Temporo-mesial extraventricular neurocytoma and cortical dysplasia in focal temporal lobe epilepsy. 2085 5

Partial epilepsy comprises simple partial seizures, complex partial seizures, and secondarily generalized seizures, and covers more than 60% of patients with epilepsy. Antiepileptic drugs are generally considered to be the major therapeutic intervention for epilepsy but, despite a broad range of commonly used antiepileptic drugs, approximately 30% of adult patients and approximately 25% of children with epilepsy have inadequate seizure control. Eslicarbazepine acetate (ESL) is a novel voltage-gated sodium channel-blocking agent with presumed good safety and efficacy for adjunctive treatment of patients with drug-resistant partial epilepsy. ESL is a prodrug of eslicarbazepine (the active entity responsible for pharmacologic effects), and is rapidly and extensively hydrolyzed during first pass by liver esterases after oral administration. The half-life of eslicarbazepine at steady-state plasma concentrations is 20-24 hours, compatible with once-daily administration. ESL 800 mg and 1200 mg significantly reduces seizure frequency and shows a favorable safety profile in adult patients with drug-resistant partial-onset seizures, as demonstrated in previous Phase II and III trials. In children, ESL showed a clear dose-dependent decrease in seizure frequency with good tolerability. The most commonly reported adverse events associated with ESL are dizziness, somnolence, nausea, diplopia, headache, vomiting, blurred vision, vertigo, and fatigue. In conclusion, these characteristics suggest that ESL might be a valid and well tolerated treatment option for patients with drug-resistant partial-onset epilepsy. The convenience of once-daily dosing and a short, simple titration regimen would be of special interest for children, although conclusive published data are lacking to date. Hence, there is an urgent need to establish the therapeutic value of ESL in this special population in the near future.
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PMID:Update on treatment of partial onset epilepsy: role of eslicarbazepine. 2112 91

Although the reported incidence of epilepsy associated with trisomy 18 is 25-50%, there have been no detailed descriptions of the characteristics of trisomy 18-related epilepsy. We investigated the characteristics of epilepsy in children with trisomy 18 who remained alive for over 1 year by sending questionnaires to pediatric neurologists belonging to the Kyoto Multi-institutional Study Group of Pediatric Neurology. Eleven patients with trisomy 18 were enrolled (age at the study, from 15 to 134 months; median, 43 months), of whom seven (64%) had epilepsy. The age at seizure onset ranged from 1 to 42 months (median: 11 months). Among the seven patients with epilepsy, two had focal epilepsy, four had generalized epilepsy including infantile spasms in three, and the remaining one had an unclassified type. Seizure seminology included complex partial seizures in both the patients with focal epilepsy. At the time of the investigation, three children with generalized epilepsy still had daily seizures, while the remaining four were seizure-free. In conclusion, the characteristics of epilepsy in patients with trisomy 18 were as follows: over half of the children developed epilepsy during infancy or early childhood; infantile spasms might be one of the common epileptic syndromes; the epilepsy was intractable in half of the children, especially in those with generalized epilepsy.
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PMID:Epilepsy in children with trisomy 18. 2424 2

The coexistence of focal and generalized epilepsy is rare. We report on a 17-year-old male with drug-resistant focal epilepsy and idiopathic generalized epilepsy (IGE). He began to experience generalized tonic-clonic seizures (GTCS) at the age of 3 years, with a good response to phenobarbital. At the age of 14 years, he began to experience complex partial seizures (CPS). Video-electroencephalography (video-EEG) telemetry showed the coexistence of right temporal spikes and bursts of generalized spike-wave (GSW). The ictal EEG showed a unique EEG pattern characterized by a 4- to 5-second burst of GSW followed by rhythmic delta activity over the right temporal region. A magnetic resonance image (MRI) showed right hippocampal sclerosis. The patient underwent a right temporal lobectomy that significantly improved his seizure control. He was rendered seizure free of the complex partial seizures and improvement of the GTCS. This case illustrates a very uncommon ictal EEG pattern, and shows that the decision for surgery in patients with focal drug-resistant epilepsy should not be affected by coexistent generalized epilepsy.
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PMID:A unique ictal EEG pattern in a patient with the coexistence of generalized and focal epilepsy. 2461 29

Vomiting is uncommon in patients with epilepsy and has been reported in both idiopathic and symptomatic epilepsies. It is presumed to originate in the anterior part of the temporal lobe or insula. To date, 44 cases of nonidiopathic focal epilepsy and seizures associated with ictal vomiting have been reported. Of the 44 cases, eight were studied using invasive exploration (3 stereo-EEG/5 subdural grids). Here, we report a 4-year-and-7-month-old patient with a history of febrile convulsion in the second year of life and who developed episodes of vomiting and complex partial seizures at 3 years of age. Scalp EEG showed no electrical modification during vomiting while the complex partial seizure displayed a clear right temporal origin. Brain MR showed hippocampal volume reduction with mild diffuse blurring of the temporal lobe. Stereoelectroencephalography study confirmed the mesiotemporal origin of the seizures and showed that the episodes of vomiting were strictly related to an ictal discharge originating in the mesial temporal structures without insular diffusion. The patient is now seizure-free (18 months) after removal of the right anterior and mesial temporal structures. In all the reported patients, seizures seemed to start in mesial temporal structures. The grid subgroup is more homogeneous, and the most prominent characteristic (4/5) is the involvement of both mesial and lateral temporal structures at the time of vomiting. In the S-EEG group, there is evidence of involvement of either the anterior temporal structures alone (2/3) or both insular cortices (1/3). Our case confirms that vomiting could occur when the ictal discharge is limited to the anterior temporal structure without insular involvement. Regarding the pathophysiology of vomiting, the role of subcortical structures such as the dorsal vagal complex and the central pattern generators (CPG) located in the reticular area is well established. Vomiting as an epileptic phenomenon seems to be related to the involvement of temporal structures, mainly mesial structures (amygdala) and with an uncertain role of the insula. An intriguing hypothesis is that the ictal discharge in mesial structures determines seizure manifestation that could be explained not only by tonic activation of the cortex, but also by 'release' (reduction of inhibition?) of the CPG responsible for involuntary motor behaviors.
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PMID:Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome. 2655 13

The prevalence and localizing value of ictal belching are yet unknown. We present the case of a patient with medically refractory focal epilepsy with simple and complex partial seizures, as well as generalized seizures. One presumed seizure type comprised frequent episodes of repetitive belching. Video-EEG monitoring during these attacks showed no ictal changes. The belching episodes were inducible and terminable through suggestion. The diagnosis of excessive supragastric belching, a previously described psychogenic condition, was made.
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PMID:Paroxysmal belching: Epileptic or nonepileptic? 2733 Sep 88

In auditory cortex, neural responses decrease with stimulus repetition, known as adaptation. Adaptation is thought to facilitate detection of novel sounds and improve perception in noisy environments. Although it is well established that adaptation occurs in primary auditory cortex, it is not known whether adaptation also occurs in higher auditory areas involved in processing complex sounds, such as speech. Resolving this issue is important for understanding the neural bases of adaptation and to avoid potential post-operative deficits after temporal lobe surgery for treatment of focal epilepsy. Intracranial electrocorticographic recordings were acquired simultaneously from electrodes implanted in primary and association auditory areas of the right (non-dominant) temporal lobe in a patient with complex partial seizures originating from the inferior parietal lobe. Simple and complex sounds were presented in a passive oddball paradigm. We measured changes in single-trial high-gamma power (70-150 Hz) and in regional and inter-regional network-level activity indexed by cross-frequency coupling. Repetitive tones elicited the greatest adaptation and corresponding increases in cross-frequency coupling in primary auditory cortex. Conversely, auditory association cortex showed stronger adaptation for complex sounds, including speech. This first report of multi-regional adaptation in human auditory cortex highlights the role of the non-dominant temporal lobe in suppressing neural responses to repetitive background sounds (noise). These results underscore the clinical utility of functional mapping to avoid potential post-operative deficits including increased listening difficulties in noisy, real-world environments.
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PMID:Multi-Regional Adaptation in Human Auditory Association Cortex. 2853 16

Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate. His intermittent episodes of hemiplegia persisted. Additionally, he had pronounced bilateral fine motor impairment and significant executive deficits that gradually worsened. The whole exome sequencing revealed a de novo missense mutation in the ATP1A2 gene and a maternally inherited POLG gene mutation of unknown clinical significance. We hypothesized that glutamatergic excitotoxicity due to the ATP1A2 mutation contributed to the pathogenesis of our patient's condition. He was started on N-methyl-D-aspartate receptor antagonists (memantine and dextromethorphan), as well as coenzyme Q10 One year later, he showed significant improvement in sustained attention, learning efficiency, general cognitive efficiency, and fine motor dexterity. We postulate that N-methyl-D-aspartate receptor antagonists were effective for behavioral, cognitive, and cerebellar symptoms in our patient with ATP1A2 gene mutation.
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PMID:Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation. 2961 Jan 57

Objectives The aim of this report is to describe a case of GAD-65 autoantibody associated epilepcy, diagnosed long before the onset of autoimmune diabetes. Case presentation This report presents a 36-year-old female with type 1 diabetes, diagnosed at the age of 26, and a cryptogenic focal epilepsy with complex partial seizures, with duration of 2-3 min and frequency of 5-6 per month, diagnosed at 16 years of age. Electroencephalography revealed epileptiform abnormalities temporally and centro-parietally on the left and temporally on the right with forward propagation on both sides. Due to the drug refractory seizures, titers of GAD-65 autoantibodies were examined (19 years after the diagnosis of epilepsy and 9 years after the diagnosis of diabetes) and were found to be elevated in serum and cerebrospinal fluid, strongly supporting its autoimmune genesis. Insulin pump therapy was used in this patient with a beneficial effect on glycemia. Conclusions Autoimmune epilepsy is a clinical entity and should be taken into consideration in patients with other autoimmune diseases, especially diabetes, and with drug refractory seizures, even preceding the onset of diabetes. Achieving stable glycemic control, including the usage of the new technologies in type 1 diabetes treatment, is vital in these cases.
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PMID:GAD-65 autoantibody associated epilepsy. 3243 60


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