Disease relevance of Seizures

• Kainic acid, a glutamate agonist at kainic acid receptors, causes severe limbic motor seizures culminating in status epilepticus [1].
• Mutant mice lacking the Kir6.2 subunit of K(ATP) channels [knockout (KO) mice] were susceptible to generalized seizures after brief hypoxia [2].
• Valproic acid, a new anticonvulsant, is most effective in absence seizures (simple and complex), but it has produced improvement in tonicclonic seizures, mixed absence with tonic-clonic seizures, and myoclonic epilepsy [3].
• Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride [4].
• Progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder, characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures [5].

Psychiatry related information on Seizures

• Blockade of tonic hindlimb extension in the maximal electroshock test and blockade of tonic and clonic seizures produced by pentylenetetrazole and bicuculline were obtained by elevating GABA in the ventral midbrain tegmentum [6].
• Complications of the acute coma included focal motor seizures, which were controlled with carbamazepine, and difficulty with short-term memory [7].
• Compared with patients with other seizure types, those with subtle and generalized tonic seizures had a significantly higher prevalence of epilepsy (P =.04 and P =.01 respectively); mental retardation (P =.02; P =.007), and cerebral palsy (P =.03; P =.002) [8].
• The analysis of sleep microstructure showed an increase in sleep instability in patients with autosomal dominant nocturnal frontal lobe epilepsy and daytime sleep complaints and indicated the relationship between sleep fragmentation, nocturnal motor seizures, and daytime symptoms [9].
• We report a seven-year-old child with 15% burns who, on withdrawal of isoflurane, suffered hallucinations, a generalized seizure and disorientation [10].

High impact information on Seizures

• Adults with prolonged (lasting five minutes or more) or repetitive generalized convulsive seizures received intravenous diazepam (5 mg), lorazepam (2 mg), or placebo [11].
• At postnatal day 16-22 Aldh5a1-/- mice display ataxia and develop generalized seizures leading to rapid death [12].
• The mean age of the patients was 36 years, 10 percent were less than 16 years of age, 70 percent were male, 71 percent had epilepsy of unknown cause, and 66 percent had generalized seizures [13].
• Lamotrigine for generalized seizures associated with the Lennox-Gastaut syndrome [14].
• Partial or secondarily generalized tonic-clonic seizures are often difficult to control adequately with standard treatment, usually carbamazepine or phenytoin [15].

Chemical compound and disease context of Seizures

• For the control of secondarily generalized tonic-clonic seizures, carbamazepine and valproate were comparably effective (in 136 patients and 138 patients, respectively) [15].
• Comparison of carbamazepine, phenobarbital, phenytoin, and primidone in partial and secondarily generalized tonic-clonic seizures [16].
• When we targeted the N-methyl-D-aspartic acid (NMDA) excitatory amino acid receptor with an AAV-delivered antisense oligonucleotide, however, the promoter determined whether focal seizure sensitivity was significantly attenuated or facilitated [17].
• Bilateral clonic seizures can be elicited after unilateral application of picomole amounts of bicuculline, kainic acid or carbachol and micromole amounts of glutamate [18].
• Changes of hippocampal Met-enkephalin content after recurrent motor seizures [19].

Biological context of Seizures

• More importantly, the combination of this secretory signal with the coding sequence for the active galanin peptide significantly attenuated in vivo focal seizure sensitivity, even with different promoters, and prevented kainic acid-induced hilar cell death [17].
• Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24 [20].
• A novel Kcnq2 missense mutation V182M was identified by screening the offspring of ENU-treated males for reduced threshold to electrically evoked minimal clonic seizures [21].
• Children undergoing surgical treatment for catastrophic epilepsy were grouped into the following pathology categories: (i) those with generalized seizures and extra-hippocampal congenital pathologies (i.e. prenatal cortical dysplasia; n = 17); (ii) cases of generalized seizures and extra-hippocampal acquired lesions [22].
• Therapeutic liabilities of in vivo viral vector tropism: adeno-associated virus vectors, NMDAR1 antisense, and focal seizure sensitivity [23].

Anatomical context of Seizures

• Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep [24].
• (4) Autoradiographic studies of cerebral metabolism in rat amygdala kindling show that, during focal seizures, the area which exhibits the most consistent increase in glucose utilization is the ipsilateral paleocortex, particularly the PC [25].
• Because NT-3 expression is reduced after focal seizures, impaired short-term facilitation may represent a protective response that limits the propagation of epileptiform activity from the entorhinal cortex to the hippocampus [26].
• Prefrontal metabolic asymmetries were more frequent in patients with left temporal lobe epilepsy (21 left, six right) and a history of secondarily generalized seizures [27].
• Depth electrode recording showed that focal seizure discharges in the right hippocampus were of shorter duration in REM and non-REM sleep [28].

Gene context of Seizures

• Kir6.2-containing KATP channels in brain also are involved in protection from hypoxia-induced generalized seizure [29].
• Mice lacking this enzyme (Pcmt1-/- mice) have elevated levels of damaged residues and die at a mean age of 42 days from massive tonic-clonic seizures [30].
• This study confirms a causative role of EJM1 in the pathogenesis of idiopathic generalized seizures in the majority of German families of JME patients and refines a candidate region of 10.1 cM in the chromosomal region 6p21 between the flanking loci HLA-DQ and D6S1019 [31].
• Selective coexpression of NR2A/B and NR1 in dysplastic neurons suggests that NR2A/B may form heteromeric NR1-NR2 coassemblies and hyperexcitability in dysplastic neurons that could contribute to focal seizure onset [32].
• The deficit in the NT-3+/- mice reflected dampening of the progression from focal to generalized seizures [33].

Analytical, diagnostic and therapeutic context of Seizures

• Here we report that most IP3R1-deficient mice generated by gene targeting die in utero, and born animals have severe ataxia and tonic or tonic-clonic seizures and die by the weaning period [34].
• A strain of chicken, called here FEpi (for Fayoumi epileptic), bearing an autosomal recessive mutation, exhibits a form of reflex epilepsy with EEG interictal paroxysmal manifestations and generalized seizures in response to either light or sound stimulations [35].
• We studied patients with partial and primary generalized seizures using fluorine-18-labeled 2-fluorodeoxyglucose and positron emission tomography [36].
• Twenty patients with juvenile myoclonic epilepsy, 10 patients each with childhood absence epilepsy and juvenile absence epilepsy, five patients with tonic-clonic seizures on awakening and 30 control subjects had T1-weighted volume acquisition MRI scans on a 1.5T GE scanner [37].
• In a double-blind crossover study, carbamazepine and phenytoin were compared as single anticonvulsants in 47 patients with focal and major generalized seizures [38].

References