absence epilepsy

Summary

Summary: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)

Top Publications

  1. Beyer B, Deleuze C, Letts V, Mahaffey C, Boumil R, Lew T, et al. Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4. Hum Mol Genet. 2008;17:1738-49 pubmed publisher
    b>Absence epilepsy, characterized by spike-wave discharges (SWD) in the electroencephalogram, arises from aberrations within the circuitry of the cerebral cortex and thalamus that regulates awareness...
  2. Helbig I, Matigian N, Vadlamudi L, Lawrence K, Bayly M, Bain S, et al. Gene expression analysis in absence epilepsy using a monozygotic twin design. Epilepsia. 2008;49:1546-54 pubmed publisher
    ..a unique sample of discordant MZ twins, our study identified genes with altered expression, which suggests novel mechanisms in idiopathic absence epilepsy. Dysregulation of EGR1 and RCN2 is implicated in idiopathic absence epilepsy.
  3. Frankel W, Beyer B, Maxwell C, Pretel S, Letts V, Siegel S. Development of a new genetic model for absence epilepsy: spike-wave seizures in C3H/He and backcross mice. J Neurosci. 2005;25:3452-8 pubmed
    ..Because C3H/He mice have no other brain abnormalities, they are an attractive alternative for studying idiopathic absence epilepsy.
  4. Zhang Y, Vilaythong A, Yoshor D, Noebels J. Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma. J Neurosci. 2004;24:5239-48 pubmed
    ..We suggest that presynaptic release defects shared by these mutants lead to postsynaptic LVA excitability increases in thalamic pacemaker neurons that favor rebound bursting and absence epilepsy.
  5. Marini C, Scheffer I, Crossland K, Grinton B, Phillips F, McMahon J, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004;45:467-78 pubmed
    ..Families were grouped according to the probands' IGE subsyndrome: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and IGE with tonic-clonic seizures ..
  6. Ernst W, Zhang Y, Yoo J, Ernst S, Noebels J. Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy. J Neurosci. 2009;29:1615-25 pubmed publisher
    ..Human and mouse P/Q-type calcium channel gene mutations initiate a complex absence epilepsy and ataxia phenotype, and in mice, secondarily elevate neuronal low-voltage-activated T-type calcium currents...
  7. Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, et al. Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res. 2007;75:145-53 pubmed
    In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees...
  8. Kole M, Bräuer A, Stuart G. Inherited cortical HCN1 channel loss amplifies dendritic calcium electrogenesis and burst firing in a rat absence epilepsy model. J Physiol. 2007;578:507-25 pubmed
    ..Here we show in a genetic rat model of absence epilepsy (WAG/Rij) that a rapid decline in expression of hyperpolarization-activated cyclic-nucleotide gated (HCN1) ..
  9. Liang J, Zhang Y, Wang J, Pan H, Wu H, Xu K, et al. New variants in the CACNA1H gene identified in childhood absence epilepsy. Neurosci Lett. 2006;406:27-32 pubmed
    Childhood absence epilepsy (CAE) is a common form of idiopathic generalized epilepsy with polygenic inheritance...

More Information

Publications62

  1. Caraballo R, Fontana E, Darra F, Bongiorni L, Fiorini E, Cersosimo R, et al. Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations. Seizure. 2008;17:617-24 pubmed publisher
    We studied the electroclinical features and evolution in patients with childhood absence epilepsy (CAE) associated with electroencephalographic findings similar to those of benign focal epilepsies (BFE) with or without clinical ..
  2. Citraro R, Russo E, Gratteri S, di Paola E, Ibbadu G, Curinga C, et al. Effects of non-competitive AMPA receptor antagonists injected into some brain areas of WAG/Rij rats, an animal model of generalized absence epilepsy. Neuropharmacology. 2006;51:1058-67 pubmed
    ..We have evaluated the effects of such compounds in a genetic animal model of absence epilepsy, the WAG/Rij rat...
  3. Meeren H, van Luijtelaar G, Lopes da Silva F, Coenen A. Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory. Arch Neurol. 2005;62:371-6 pubmed
    ..In this way the "cortical focus" theory for generalized absence epilepsy bridges cortical and thalamic theories.
  4. Tanaka M, Olsen R, Medina M, Schwartz E, Alonso M, Duron R, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet. 2008;82:1249-61 pubmed publisher
    Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE...
  5. Coppola G, Auricchio G, Federico R, Carotenuto M, Pascotto A. Lamotrigine versus valproic acid as first-line monotherapy in newly diagnosed typical absence seizures: an open-label, randomized, parallel-group study. Epilepsia. 2004;45:1049-53 pubmed
    ..8%) treated with LTG. Both VPA and LTG can be efficacious against absence seizures, although VPA shows a much faster onset of action, at least in part because of its shorter titration schedule. ..
  6. Wang J, Zhang Y, Liang J, Pan H, Wu H, Xu K, et al. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. Pediatr Neurol. 2006;35:187-90 pubmed
    ..the T-type calcium channel gene CACNA1I causes susceptibility in the Chinese Han population to childhood absence epilepsy, a form of idiopathic generalized seizure disorder...
  7. Duncan C, Mirsky A, Lovelace C, Theodore W. Assessment of the attention impairment in absence epilepsy: comparison of visual and auditory P300. Int J Psychophysiol. 2009;73:118-22 pubmed publisher
    ..C., 1988. Application of event-related brain potentials to the analysis of interictal attention in absence epilepsy. In: Myslobodsky, M.S., Mirsky, A.F. (Eds.), Elements of Petit Mal Epilepsy. Peter Lang, New York, pp...
  8. Weiergräber M, Stephani U, Köhling R. Voltage-gated calcium channels in the etiopathogenesis and treatment of absence epilepsy. Brain Res Rev. 2010;62:245-71 pubmed publisher
    ..e., hyperoscillation within the reticulothalamocortical circuitry, is the electrophysiological correlate of absence epilepsy, with extrathalamocortical structures, e.g...
  9. Glauser T, Cnaan A, Shinnar S, Hirtz D, Dlugos D, Masur D, et al. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med. 2010;362:790-9 pubmed publisher
    Childhood absence epilepsy, the most common pediatric epilepsy syndrome, is usually treated with ethosuximide, valproic acid, or lamotrigine. The most efficacious and tolerable initial empirical treatment has not been defined...
  10. Hanaya R, Koning E, Ferrandon A, Nehlig A. The role of the inherited genetic background on the consequences of lithium-pilocarpine status epilepticus: study in Genetic Absence Epilepsy Rats from Strasbourg and Wistar audiogenic rats. Neurobiol Dis. 2008;31:451-8 pubmed publisher
    ..Here, we induced lithium-pilocarpine status epilepticus (SE) in Genetic Absence Epilepsy Rats from Strasbourg (GAERS) or in Wistar audiogenic sensitive (AS) rats...
  11. Grosso S, Galimberti D, Vezzosi P, Farnetani M, Di Bartolo R, Bazzotti S, et al. Childhood absence epilepsy: evolution and prognostic factors. Epilepsia. 2005;46:1796-801 pubmed
    To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of outcome...
  12. Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber Y, et al. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006;59:983-7 pubmed
    ..We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the mutant, truncated receptor, which was ..
  13. Liang J, Zhang Y, Chen Y, Wang J, Pan H, Wu H, et al. Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. Ann Hum Genet. 2007;71:325-35 pubmed
    ..with a relatively high frequency in the CACNA1H gene have previously been identified in cases of childhood absence epilepsy (CAE) in the Chinese Han population most of which are located in exons 6 to 12...
  14. Cope D, Di Giovanni G, Fyson S, Orbán G, Errington A, Lorincz M, et al. Enhanced tonic GABAA inhibition in typical absence epilepsy. Nat Med. 2009;15:1392-8 pubmed publisher
    ..Extrasynaptic GABA(A) receptors are a requirement for seizures in two of the best characterized models of absence epilepsy, and the selective activation of thalamic extrasynaptic GABA(A) receptors is sufficient to elicit both ..
  15. Posner E, Mohamed K, Marson A. A systematic review of treatment of typical absence seizures in children and adolescents with ethosuximide, sodium valproate or lamotrigine. Seizure. 2005;14:117-22 pubmed
    ..Due to the heterogeneity of the studies the results could not be pooled in a meta-analysis. We found no reliable evidence to inform clinical practice. The design of further trials should be pragmatic and compare one drug with another. ..
  16. Vitko I, Bidaud I, Arias J, Mezghrani A, Lory P, Perez Reyes E. The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations. J Neurosci. 2007;27:322-30 pubmed
    ..supports the hypothesis that overactive T-channels may contribute to thalamocortical dysrhythmia, including absence epilepsy. Single nucleotide polymorphisms in one of the T-channel genes (CACNA1H, which encodes Ca(v)3...
  17. Powell K, Cain S, Ng C, Sirdesai S, David L, Kyi M, et al. A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy. J Neurosci. 2009;29:371-80 pubmed publisher
    ..2 T-type Ca(2+) channel gene (Cacna1h) in the genetic absence epilepsy rats from Strasbourg (GAERS) model of IGE. The GAERS Ca(v)3...
  18. Pardoe H, Pell G, Abbott D, Berg A, Jackson G. Multi-site voxel-based morphometry: methods and a feasibility demonstration with childhood absence epilepsy. Neuroimage. 2008;42:611-6 pubmed publisher
    ..study we examine MRI data from three different sites to investigate structural differences between childhood absence epilepsy (CAE) subjects and controls. T1-weighted structural MRI scans were acquired from: Site A...
  19. Russo E, Citraro R, De Fazio S, Marra R, Gitto R, Chimirri A, et al. Enhancement of anti-absence effects of ethosuximide by low doses of a noncompetitive alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist in a genetic animal model of absence epilepsy. Epilepsy Behav. 2008;13:295-9 pubmed publisher
    ..potential effect of such a compound alone or co-administered with ethosuximide in a genetic animal model of absence epilepsy, the WAG/Rij rat...
  20. Moeller F, Siebner H, Wolff S, Muhle H, Granert O, Jansen O, et al. Simultaneous EEG-fMRI in drug-naive children with newly diagnosed absence epilepsy. Epilepsia. 2008;49:1510-9 pubmed publisher
    ..to investigate BOLD signal changes during absence seizures in children with newly diagnosed childhood absence epilepsy (CAE). Ten drug-naive children with newly diagnosed CAE underwent simultaneous EEG-fMRI...
  21. Klein J, Khera D, Nersesyan H, Kimchi E, Waxman S, Blumenfeld H. Dysregulation of sodium channel expression in cortical neurons in a rodent model of absence epilepsy. Brain Res. 2004;1000:102-9 pubmed
    ..In the WAG/Rij model of absence epilepsy, we identified a specific region of cortex, in layer II-IV neurons on the lateral convexity of the cortex in ..
  22. Holter J, Carter D, Leresche N, Crunelli V, Vincent P. A TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsy. J Mol Neurosci. 2005;25:37-51 pubmed
    Childhood absence epilepsy is an idiopathic, generalized, nonconvulsive epilepsy with a multifactorial genetic etiology...
  23. Akman O, Demiralp T, Ates N, Onat F. Electroencephalographic differences between WAG/Rij and GAERS rat models of absence epilepsy. Epilepsy Res. 2010;89:185-93 pubmed publisher
    The inbred Wistar Albino Glaxo Rats from Rijswijk (WAG/Rij) and the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are well-validated genetic models of absence epilepsy...
  24. Berdiev R, Chepurnov S, Veening J, Chepurnova N, van Luijtelaar G. The role of the nucleus basalis of Meynert and reticular thalamic nucleus in pathogenesis of genetically determined absence epilepsy in rats: a lesion study. Brain Res. 2007;1185:266-74 pubmed
    ..of the generation spontaneous spike-and-wave discharges (SWDs) was investigated in the WAG/Rij rat model of absence epilepsy. Selective lesions were affected by local unilateral intraparenchymal infusions of immunotoxin 192 IgG-..
  25. Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, Covanis A, et al. Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res. 2006;69:177-81 pubmed
    CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients...
  26. Gauguier D, van Luijtelaar G, Bihoreau M, Wilder S, Godfrey R, Vossen J, et al. Chromosomal mapping of genetic loci controlling absence epilepsy phenotypes in the WAG/Rij rat. Epilepsia. 2004;45:908-15 pubmed
    The WAG/Rij rat is among the most appropriate models for the study of spontaneous childhood absence epilepsy, without complex neurologic disorders that are associated with some mouse models for absence epilepsy...
  27. Toth T, Bessaih T, Leresche N, Crunelli V. The properties of reticular thalamic neuron GABA(A) IPSCs of absence epilepsy rats lead to enhanced network excitability. Eur J Neurosci. 2007;26:1832-44 pubmed
    ..Recently we showed that, prior to seizure onset, GABA(A) IPSCs in thalamic reticular (NRT) neurons of genetic absence epilepsy rats from Strasbourg (GAERS) had a 25% larger amplitude, a 40% faster decay and a 45% smaller paired-pulse ..
  28. Bessaïh T, Bourgeais L, Badiu C, Carter D, Toth T, Ruano D, et al. Nucleus-specific abnormalities of GABAergic synaptic transmission in a genetic model of absence seizures. J Neurophysiol. 2006;96:3074-81 pubmed
    ..somatosensory cortex, ventrobasal thalamus (VB) and nucleus reticularis thalami (NRT), in preseizure genetic absence epilepsy rats from Strasbourg (GAERS), a well-established genetic model of typical absence seizures that shows no ..
  29. Powell K, Kyi M, Reid C, Paradiso L, D Abaco G, Kaye A, et al. Genetic absence epilepsy rats from Strasbourg have increased corticothalamic expression of stargazin. Neurobiol Dis. 2008;31:261-5 pubmed publisher
    ..gene has been identified as controlling the frequency and duration of absence seizures in the Genetic Absence Epilepsy Rats from Strasbourg (GAERS)...
  30. Chung W, Shin M, JARAMILLO T, Leibel R, LeDuc C, Fischer S, et al. Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009;33:499-508 pubmed publisher
    ..Abnormalities of I(h) and h channel expression have been found in many animal models of absence epilepsy. We characterized a novel spontaneous mutant mouse, apathetic (ap/ap), and identified the ap mutation as a 4 ..
  31. Tan H, Reid C, Single F, Davies P, Chiu C, Murphy S, et al. Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proc Natl Acad Sci U S A. 2007;104:17536-41 pubmed
    Mutations in the GABA(A) receptor gamma2 subunit are associated with childhood absence epilepsy and febrile seizures...
  32. Graf M, Jakus R, Kantor S, Levay G, Bagdy G. Selective 5-HT1A and 5-HT7 antagonists decrease epileptic activity in the WAG/Rij rat model of absence epilepsy. Neurosci Lett. 2004;359:45-8 pubmed
    ..evidence that activation of 5-HT1A receptors increases epileptic activity in the WAG/Rij rat model of absence epilepsy, and additional data have suggested the involvement of 5-HT7 receptors as well...
  33. Strauss U, Kole M, Bräuer A, Pahnke J, Bajorat R, Rolfs A, et al. An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy. Eur J Neurosci. 2004;19:3048-58 pubmed
    ..We suggest that the deficit in Ih-mediated functions may contribute to the development and onset of spontaneously occurring hyperexcitability in a rat model of absence seizures. ..
  34. Karpova A, Bikbaev A, Coenen A, van Luijtelaar G. Morphometric Golgi study of cortical locations in WAG/Rij rats: the cortical focus theory. Neurosci Res. 2005;51:119-28 pubmed
    Recently it was demonstrated that for the absence epilepsy characteristic spike-wave discharges initially emerge from the somatosensory cortex and quickly involve the rest of the cortex and cortico-thalamic network...
  35. Li H, Kraus A, Wu J, Huguenard J, Fisher R. Selective changes in thalamic and cortical GABAA receptor subunits in a model of acquired absence epilepsy in the rat. Neuropharmacology. 2006;51:121-8 pubmed
    ..Selective reductions in GABA(A) receptor subunits in thalamus may play a role in pathophysiology of absence epilepsy.
  36. Wu J, Ellsworth K, Ellsworth M, Schroeder K, Smith K, Fisher R. Abnormal benzodiazepine and zinc modulation of GABAA receptors in an acquired absence epilepsy model. Brain Res. 2004;1013:230-40 pubmed
    ..synthesis inhibition (CSI) at a young age in rats has been shown to be a faithful model of acquired absence epilepsy, a devastating condition for which few therapies or models exist...
  37. Russo E, Citraro R, Scicchitano F, De Fazio S, Di Paola E, Constanti A, et al. Comparison of the antiepileptogenic effects of an early long-term treatment with ethosuximide or levetiracetam in a genetic animal model of absence epilepsy. Epilepsia. 2010;51:1560-9 pubmed publisher
    ..The aim of our experiments was to determine, in the WAG/Rij model of absence epilepsy, if early long-term treatment with some established antiabsence drugs might prevent the development of ..
  38. Suntsova N, Kumar S, Guzman Marin R, Alam M, Szymusiak R, McGinty D. A role for the preoptic sleep-promoting system in absence epilepsy. Neurobiol Dis. 2009;36:126-41 pubmed publisher
    b>Absence epilepsy (AE) in humans and the genetic AE model in WAG/Rij rats are both associated with abnormalities in sleep architecture that suggest insufficiency of the sleep-promoting mechanisms...
  39. Somerville E. Some treatments cause seizure aggravation in idiopathic epilepsies (especially absence epilepsy). Epilepsia. 2009;50 Suppl 8:31-6 pubmed publisher
    ..It can largely be prevented by accurate syndromic diagnosis and the treatment of generalized epilepsies with drugs that are effective against primary generalized seizures and avoiding those that are not. ..
  40. Papale L, Beyer B, Jones J, Sharkey L, Tufik S, Epstein M, et al. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet. 2009;18:1633-41 pubmed publisher
    ..6. Electroencephalography (EEG) revealed well-defined spike-wave discharges (SWD), the hallmark of absence epilepsy, in Scn8a(8J) heterozygotes and in heterozygotes for two classical Scn8a alleles, Scn8a(med) (null) and Scn8a(..
  41. Gareri P, Condorelli D, Belluardo N, Citraro R, Barresi V, Trovato Salinaro A, et al. Antiabsence effects of carbenoxolone in two genetic animal models of absence epilepsy (WAG/Rij rats and lh/lh mice). Neuropharmacology. 2005;49:551-63 pubmed
    ..No effects were observed in both animal models following systemic or focal administration of glycyrrhizin into the same brain areas where CBX was shown to be effective. ..
  42. Posner E. Pharmacological treatment of childhood absence epilepsy. Expert Rev Neurother. 2006;6:855-62 pubmed
    This review discusses current pharmacological treatment of childhood absence epilepsy (CAE)...
  43. Kang J, Kang J, Macdonald R. The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. J Neurosci. 2004;24:8672-7 pubmed
    The GABA(A) receptor gamma2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures...
  44. Tovia E, Goldberg Stern H, Shahar E, Kramer U. Outcome of children with juvenile absence epilepsy. J Child Neurol. 2006;21:766-8 pubmed
    The incidence and natural history of childhood absence epilepsy are well documented, but those of juvenile absence epilepsy are poorly delineated...
  45. Suls A, Mullen S, Weber Y, Verhaert K, Ceulemans B, Guerrini R, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol. 2009;66:415-9 pubmed publisher
    ..We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter...
  46. Urak L, Feucht M, Fathi N, Hornik K, Fuchs K. A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum Mol Genet. 2006;15:2533-41 pubmed
    Childhood absence epilepsy (CAE) is considered to exhibit a complex non-Mendelian pattern of inheritance. So far, only few CAE susceptibility genes have been identified...
  47. Song I, Kim D, Choi S, Sun M, Kim Y, Shin H. Role of the alpha1G T-type calcium channel in spontaneous absence seizures in mutant mice. J Neurosci. 2004;24:5249-57 pubmed
  48. Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, et al. Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet. 2007;15:463-72 pubmed
    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG...
  49. Li H, Huguenard J, Fisher R. Gender and age differences in expression of GABAA receptor subunits in rat somatosensory thalamus and cortex in an absence epilepsy model. Neurobiol Dis. 2007;25:623-30 pubmed
    b>Absence epilepsy is more prevalent in females, but reasons for this gender asymmetry are unknown...
  50. Cortez M, Wu Y, Gibson K, Snead O. Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. Pharmacol Biochem Behav. 2004;79:547-53 pubmed
    ..As well, the SSADH(-/-) may represent a unique animal model of the transition from absence to myoclonic and generalized convulsive seizures that is observed in up to 80% of patients with juvenile absence epilepsy.
  51. Chen Y, Lu J, Zhang Y, Pan H, Wu H, Xu K, et al. T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population. Neurosci Lett. 2003;341:29-32 pubmed
    We investigated whether the T-type calcium channel gene alpha (1G) is associated with childhood absence epilepsy (CAE), a form of idiopathic generalized epilepsy...
  52. Letts V, Felix R, Biddlecome G, Arikkath J, Mahaffey C, Valenzuela A, et al. The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat Genet. 1998;19:340-7 pubmed
    Stargazer mice have spike-wave seizures characteristic of absence epilepsy, with accompanying defects in the cerebellum and inner ear. We describe here a novel gene, Cacng2, whose expression is disrupted in two stargazer alleles...
  53. Coenen A, van Luijtelaar E. Genetic animal models for absence epilepsy: a review of the WAG/Rij strain of rats. Behav Genet. 2003;33:635-55 pubmed
    ..paper, conclusions can be drawn with respect to the validity of the WAG/Rij strain of rats as a model for absence epilepsy in humans...