Symptoma

Juvenile Absence Epilepsy

JAE

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]

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]

  • 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]

  • 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]

    The ictal EEG is characteristic, and usually has regular and symmetrical generalised discharges of 3–4 Hz “spike and slow” wave complexes, and may also have multiple spike and slow wave complexes (fig 1 ). 1 The background interictal EEG is usually normal [adc.bmj.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]

  • Generalized Polyspikes

    An EEG in untreated individuals is typically abnormal with a specific EEG pattern, known as a 3-6 Hz generalized polyspike and wave discharge. An example of this condition is shown in the figure at the top of this page. [epilepsy.com]

    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]

  • 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]

The recognition of this particular pattern allows correct classification and impacts both treatment and prognosis. [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]

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]

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 [email protected] [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]

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 the etiology of JAE. Sodium Valproate (Depakine ) is the first choice anti-epileptic medication, controlling both absences and tonic-clonic seizures. [1pdf.net]

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]

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]

الصفحة 64 - A prospective, population-based epidemiologic study of status epilepticus in Richmond, Virginia. ‏ [books.google.com]

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]

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 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]

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]

Prevention - Epilepsy juvenile absence Early detection and treatment of patients with absences can be a means of secondary prevention of convulsive seizures. [checkorphan.org]

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]

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]