Edit concept Question Editor Create issue ticket

Juvenile Absence Epilepsy

JAE


Presentation

  • After six years of being seizure-free, she presented with an episode characterized by mental confusion, abnormal behaviour, and amnesia, lasting for several hours.[ncbi.nlm.nih.gov]
  • Our mutation analysis of coding regions and splice junctions revealed only two silent polymorphisms (A522C and C1173T) out of the five SNPs present in public databases and no mutations affecting protein structure.[ncbi.nlm.nih.gov]
  • Development and cognition prior to presentation are typically normal. Attention deficit hyperactivity disorder and learning difficulties may also occur. A previous history of febrile seizures is seen occasionally.[epilepsydiagnosis.org]
  • Abstract Fifteen patients aged 11-25 years (mean 15.37, SD 3.89) suffering from juvenile absence epilepsy are presented.[ncbi.nlm.nih.gov]
  • The present association and linkage study tested the hypothesis that allelic variants of GRIK1 confer genetic susceptibility to the pathogenesis of JAE.[ncbi.nlm.nih.gov]
Turkish
  • […] the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish[ncbi.nlm.nih.gov]
Collapse
  • They are generally mild and do not cause a collapse of the human body.[dovemed.com]
Difficulty Walking
  • The person may be confused, may not be able to respond normally, or may have difficulty walking. More than 3 out of 4 (over 75%) people with JAE also have generalized tonic-clonic seizures with body stiffening and jerking, usually when waking up.[epilepsy.com]
Onset around Puberty
  • However, age at onset (around puberty) and frequency of seizures (less frequent than of childhood absence epilepsy) are insufficient criteria for the categorization of any syndrome.[medlink.com]

Workup

Spike-and-Slow-Waves
  • All patients had minimum twice EEG recordings and all had typical 3-Hz generalized spike and slow-wave discharges at least on one EEG.[ncbi.nlm.nih.gov]
  • […] discharges of spike-polyspike-slow waves. (3) Predominantly brief discharges (shorter than 4 seconds).[medlink.com]
  • wave discharges on the EEG (electroencephalography).[dovemed.com]
  • Diagnostic methods Diagnosis relies on the clinical features and on electroencephalogram (EEG) recorded awake and during sleep, that displays a generalized 3-4 Hz spike-and-slow-wave complexes.[orpha.net]
  • An EEG test will usually show a pattern called generalised spike and slow wave activity, particularly if the child or young person is tired or has been sleep-deprived before the test.[epilepsy.org.uk]
3-4 Hz Spikes
  • Diagnostic methods Diagnosis relies on the clinical features and on electroencephalogram (EEG) recorded awake and during sleep, that displays a generalized 3-4 Hz spike-and-slow-wave complexes.[orpha.net]
  • Generalized 3-4 Hz spike or polyspike slow-wave complexes. Neuro Imaging: Not usually required. Mainly from other IGEs such as CAE or Juvenile Myoclonic Epilepsy (JME). At onset, both JAE and JME may present with GTCS.[pennsw.com.au]
  • Childhood absence epilepsy with tonicclonic seizures and electroencephalogram 3-4-Hz spike and multispikeslow wave complexes: linkage to chromosome 8q24. Am J Hum Genet. ‎[books.google.es]
  • 4 Hz spikes and waves in all regions of the brain 1 st -line : valproic acid Avoid triggers : sleep deprivation, alcohol, drugs, flickering lights 60% are seizure -free under treatment Transition to juvenile myoclonic epilepsy possible Juvenile myoclonic[amboss.com]
  • Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet. 1998 Oct. 63(4):1117-29. [Medline].[reference.medscape.com]
3 Hz Spikes
  • The 3 Hz spike and wave discharges are thought to reflect a synchronized thalamocortical network. T-type calcium channels in the thalamus are thought to be an important component in the epileptic circuit.[docneuro.com]
  • EEG shows classical generalized 3 Hz spike-and-slow-wave discharges. Response to appropriate pharmacological treatment is usually excellent, but relapses are probably unavoidable on drug withdrawal.[medlink.com]
  • Triggers: hyperventilation, lights 3 Hz spikes and waves in all regions of the brain 1 st line : ethosuximide 2 nd line : sodium valproate 3 rd line : lamotrigine 80% of children are seizure -free with treatment Usually subsides before adulthood Juvenile[amboss.com]
  • Typical absence seizures have generalized 3-Hz spike-and-wave complexes (see image below). EEG of a typical absence seizure with 3-Hz spike-and-wave discharges.[reference.medscape.com]
  • An EEG shows 3 Hz spike and wave or polyspike and wave discharges during a clinical absence seizure. The EEG background is usually normal; interictal brief generalized spike and wave discharges can be seen, especially during sleep.[medicalhomeportal.org]
Generalized Polyspikes
  • Bursts of generalized polyspikes and waves (multiple spike-and-slow-wave complexes) may also be seen, [30] especially during sleep and in syndromes with older age of onset.[reference.medscape.com]
  • However, all affected individuals displayed classic JME symptoms with typical EEG traits of 4‐ to 4.5‐Hz generalized polyspike waves, further supporting the notion that EFHC1 mutations are associated with classic JME without pyknoleptic absences. 6 On[onlinelibrary.wiley.com]
  • Generalized polyspike-and-waves are the most characteristic electroencephalographic pattern. Usual neuroimaging studies show no abnormalities. Atypical presentations should be entertained, as they are likely to induce misdiagnosis.[scielo.br]
  • The interictal EEG shows generalized polyspike wave discharges on a normal background.[academic.oup.com]
Generalized Spike-and-Slow-Waves
  • All patients had minimum twice EEG recordings and all had typical 3-Hz generalized spike and slow-wave discharges at least on one EEG.[ncbi.nlm.nih.gov]
  • There are no known before or after effects of absence seizures. [13] Absence seizures have two essential components: [2] [3] [4] Clinical - the impairment of consciousness (absence) Electroencephalography - an (EEG) shows generalized spike-and-slow wave[en.wikipedia.org]
  • Classic absence seizures display generalized spikes and slow-wave complexes at 3 Hz during the ictal phase. 1,3,6 Usually, patients are asked to overbreathe for up to 3 minutes to trigger an absence episode; almost all untreated patients with childhood[uspharmacist.com]

Treatment

  • The recognition of this particular pattern allows correct classification and impacts both treatment and prognosis.[ncbi.nlm.nih.gov]
  • Moreover, EEG recording and subsequent treatment were not performed until the second day of status.[ncbi.nlm.nih.gov]
  • The frequency and the duration of the GTCS before the start of VPA treatment seemed to have an adverse effect on AS control.[ncbi.nlm.nih.gov]
  • Some of the services we provide include: • Brachial Plexus Palsy treatment • Cerebral Palsy treatment • Epilepsy treatment • General Neurology treatment • Movement Disorders treatment • Neurofibromatosis Center treatment • Stroke treatment • Tuberous[neuro.wustl.edu]
  • This is particularly needed to provide an appropriate counselling for patients and their families and also to formulate better individualized treatment plans for the patients. KEYWORDS: Juvenile absence epilepsy; Outcome; Seizure; Treatment[ncbi.nlm.nih.gov]

Prognosis

  • The recognition of this particular pattern allows correct classification and impacts both treatment and prognosis.[ncbi.nlm.nih.gov]
  • Prognosis Prognosis of JAE is usually favorable with good therapy responsiveness. Generally, seizure freedom can be achieved with antiepileptic medication in 62-84% of all patients with JAE.[orpha.net]
  • […] assessed multiple clinical and EEG factors as predictors of outcome and compared a classification according to the predominant pattern of seizure recurrence (pyknoleptic, PA or non pyknoleptic absence, NPA) with the ILAE classification with respect to prognosis[ncbi.nlm.nih.gov]
  • Long-term prognosis is unclear. If you have a child who you think may have this condition and you would like us to review the diagnosis or provide genetic testing please contact us at neuroscience@meyer.it.[neuroscienceandgenetics.it]
  • Juvenile form of absence epilepsy shares similar symptoms with the childhood form but it is a distinct epilepsy syndrome with statistically less favorable prognosis of permanent remission.[doctorstrizhak.com]

Etiology

  • Hereditary factors play a major role in the etiology of juvenile absence epilepsy (JAE) that is a common subtype of idiopathic generalized epilepsy (IGE).[ncbi.nlm.nih.gov]
  • Hereditary factors play a major role in its etiology. The important function of glutamate receptors (GluRs) in excitatory neurotransmission, synaptic plasticity, and neurodevelopment suggests their involvement in epileptogenesis.[ncbi.nlm.nih.gov]
  • Etiology The exact etiology of JAE is still elusive. However, genetic mutations for voltage-gated sodium channels ( CACNB4 gene (2q22-q23)), potassium channels ( CLCN2 gene (3q27.1)), and EFHC1 (6p12.3) may be involved in a subset of patients.[orpha.net]
  • Hereditary factors play a major role in the etiology of JAE. Sodium Valproate (Depakine ) is the first choice anti-epileptic medication, controlling both absences and tonic-clonic seizures.[1pdf.net]
  • The book is designed to supplement standard textbooks that provide detailed information on etiology, pathogenesis and therapeutic controversies in pediatric clinical neuroscience.[books.google.com]

Epidemiology

  • الصفحة 64 - A prospective, population-based epidemiologic study of status epilepticus in Richmond, Virginia. ‏[books.google.com]
  • Summary Epidemiology The incidence of JAE is still unknown but it accounts for approximately 2-3% of patients with adult epilepsy in general, and about 8-10% of patients with genetic generalized epilepsy (GGE). No sex predominance has been observed.[orpha.net]
  • Epidemiology The incidence and prevalence of JAE in the general population are not known. Genetics Familial and twin studies suggest that genetic factors play a major role in the etiology of JAE. An autosomal dominant gene seems to be involved.[1pdf.net]
  • Epidemiology and Genetics of JAE Juvenile Absence Epilepsy makes up about 10% of idiopathic adult epilepsy syndromes. Both genders appear to be affected equally.[doctorstrizhak.com]
  • Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study.[books.google.es]
Sex distribution
Age distribution

Pathophysiology

  • The characterization of a seizure as generalized or focal onset depends on a basic knowledge of the underlying pathophysiology.[ncbi.nlm.nih.gov]
  • The authors provide for each form of SE the underlying genetic, biological, and developmental background, the pathophysiological processes, as well as the precipitating factors that lead to an episode.[books.google.ro]
  • Expression of this gene in the developing brain may help explain an age-related onset and remission in childhood absence epilepsy. [20] Pathophysiology The pathophysiology of absence seizures is not fully understood.[reference.medscape.com]
  • Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory. Arch Neurol. 2005 ;62: 371 - 376. Google Scholar Crossref Medline 17. Lin, K, Jackowski, AP, Carrete, H.[journals.sagepub.com]
  • […] with childhood absence epilepsy will have absence activity triggered by hyperventilation. 1,6 Sensitivity to light or other photic stimuli is not associated with absence seizure and has been proposed as an exclusion criterion by some researchers. 1 Pathophysiology[uspharmacist.com]

Prevention

  • What can I do to help manage or prevent my child's seizures? Have your child take his or her medicine every day at the same time. This will also help prevent medicine side effects.[drugs.com]
  • Prevention - Epilepsy juvenile absence Early detection and treatment of patients with absences can be a means of secondary prevention of convulsive seizures.[checkorphan.org]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Sold under the brand name Zonegran, the drug functions by stabilising electrical activity in the brain to prevent seizures from occurring.[epilepsyresearch.org.uk]
  • […] slowly, last longer (up to a few minutes), and can include slumping or falling down Please find comprehensive information on Absence Seizure regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention[dovemed.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!