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Autosomal Dominant Lateral Temporal Lobe Epilepsy

ADEAF


Presentation

  • The two families presented different clinical phenotypes and seizure control to drug treatment.[ncbi.nlm.nih.gov]
  • ADLTE patients can present focal seizures associated with auditory stimuli triggers, originating from the lateral temporal lobe cortex, occassionally becoming generalised. Auditory auras, related to this part of the brain, are common.[amplexa.com]
  • 50% of families will present a mutation in the LGI1 gene on chromosome 10q.[medlink.com]
  • Presentation A stroke tends to produce a rapid onset of symptoms whilst a space-occupying lesion will produce a more insidious onset.[patient.info]
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Impulsivity
  • Gov't MeSH terms Adult Asian Continental Ancestry Group/genetics* Child Chromosome Aberrations* DNA Mutational Analysis* Disruptive, Impulse Control, and Conduct Disorders/diagnosis Disruptive, Impulse Control, and Conduct Disorders/genetics Electroencephalography[ncbi.nlm.nih.gov]
  • Epilepsy is a neurological disorder in which the electrical impulses that control the brain occasionally malfunction, causing various types of seizures.[consumer.healthday.com]
Receptive Aphasia
  • Ictal receptive aphasia is a sudden inability to understand language without general confusion.[pediatricneurologybriefs.com]
  • Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion.[ncbi.nlm.nih.gov]
  • This inability to understand speech is known as receptive aphasia .[familydiagnosis.com]
  • PY - 2008/12/9 Y1 - 2008/12/9 N2 - Background:: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an idiopathic focal epilepsy syndrome with auditory symptoms or receptive aphasia as major ictal manifestations, frequently associated[jhu.pure.elsevier.com]
  • In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand[checkorphan.org]
Nocturnal Seizure
  • Timing GTCS predominantly nocturnal. Seizure-precipitating factors Sleep. Diagnostic procedures MRI is normal. Inter-ictal EEG Often normal; epileptiform abnormalities rarely occur. Prognosis Excellent.[epilepsy.com]
  • However, approximately 30% of patients will be intractable, many of whom will continue to have frequent nocturnal seizures.[emedicine.medscape.com]

Workup

  • […] frontal lobe epilepsy frequently require invasive EEG monitoring On intracranial EEG, Ictal onset most often appears as a low-voltage, high-frequency discharge (ie, buzz), although rhythmic activity at alpha, theta, or delta frequencies may be seen See Workup[emedicine.medscape.com]
  • In our opinion genetic aetiology may not be an absolute contraindication for surgery; phenotypic expression and a personalized pre-surgical workup could help to select which patients could benefit from surgery.[ccrejournal.eu]
  • This requires extensive workup with detailed brain imaging and EEGs. A neurosurgeon will then surgically remove the area of the brain that is causing the seizures. This is called epilepsy surgery.[childneurologyfoundation.org]
Focal Slow-Waves
  • The interictal EEG recordings showed epileptiform abnormalities or focal slow waves in 80% of patients, localized over the temporal regions, with marked left predominance and conventional 1,5T MRI scans were not contributory.[ncbi.nlm.nih.gov]
  • Inter-ictal EEG is often abnormal with focal slow waves and spikes over the affected temporal lobe. Ictal EEG demonstrates 4 to 7 Hz rhythmic activity or fast spiking in the leads over the affected temporal lobe.[doctorstrizhak.com]

Treatment

  • The two families presented different clinical phenotypes and seizure control to drug treatment.[ncbi.nlm.nih.gov]
  • Brand-new chapters in the drug and diet section cover perampanel, ezogabine, and lacosamide, while the existing chapters on major medical treatments have been comprehensively updated to reflect the latest trials and studies.[books.google.com]

Prognosis

  • RESULTS: The main clinical characteristics included a young age at onset (mean, 12.4 years), diverse phenotypic manifestations, the occurrence of generalized tonic-clonic seizures, and a favorable prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Autosomal dominant partial epilepsy with auditory features Not supplied. Treatment - Autosomal dominant partial epilepsy with auditory features Not supplied. Resources - Autosomal dominant partial epilepsy with auditory features[checkorphan.org]
  • Prognosis Excellent. Patients are neurologically and mentally normal, and the condition does not appear to affect their otherwise normal life, particularly when on medication.[epilepsy.com]
  • Prognosis and Treatment of Lateral Temporal Epilepsy The prognosis largely depends on the cause of the brain lesion and is not very predictable.[doctorstrizhak.com]
  • Prognosis The prognosis will depend on the underlying cause and comorbidities.[patient.info]

Etiology

  • 結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159.[cell.brc.riken.jp]
  • Etiology was classified as progressive/ metabolic (PM), remote symptomatic (RS), acute symptomatic (AS).[ccrejournal.eu]
  • The causes or etiology of different temporal lobe epilepsies vary. MTLE is often associated with generalized tonic-clonic (convulsive) seizures occurring in children under age 5 during fevers (febrile seizures).[prod.wiki.cns.org]
  • Etiology and pathogenesis of temporal lobe epilepsy. Arch Neurol 1964 ; 10 : 233 –48. Ottman R , Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995 ; 10 : 56 –60.[jnnp.bmj.com]

Epidemiology

  • Temporal Lobe, Autosomal Dominant 74 Autosomal Dominant Lateral Temporal Lobe Epilepsy 60 Autosomal Dominant Lateral Temporal Epilepsy 25 Partial Epilepsy with Auditory Features 60 Partial Epilepsy with Auditory Aura 60 Adpeaf 60 Characteristics: Orphanet epidemiological[malacards.org]
  • From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals[books.google.com]
  • Ottman developed and teaches the course in genetic epidemiology required of epidemiology doctoral students at Columbia.[cumc.columbia.edu]
  • SOURCES: Interviews with Ruth Ottman, Ph.D., professor, Department of Epidemiology, and deputy director for research, G.H. Sergievsky Center, Columbia University, New York; Jeffrey L.[consumer.healthday.com]
Sex distribution
Age distribution

Pathophysiology

  • […] disorders Abstract Author Information Authors This article reviews the most significant advances in the field of genetics of the epilepsies during the past year, with emphasis on newly identified genes and functional studies leading to new insights into the pathophysiology[journals.lww.com]
  • […] in many cases of benign partial epilepsy of childhood, a disorder once thought t 28 of a common form of human epilepsy, complex partial epilepsy of temporal lobe origin, has establishe 29 ances underlying and revealing mechanisms of partial epilepsy pathophysiology[lsd-project.jp]
  • Recent findings and their pathophysiological implications. Lancet, 36 , 417–419. Google Scholar Harrison, P. J., & Weinberger, D. R. (2005). Schizophrenia genes, gene expression, and neuropathology: On the matter of their convergence.[link.springer.com]

Prevention

  • Prevention - Autosomal dominant partial epilepsy with auditory features Not supplied. Diagnosis - Autosomal dominant partial epilepsy with auditory features Not supplied.[checkorphan.org]
  • Usually medicine from a doctor can help prevent seizures from occurring. Speak with your doctor about the best personal plan of action. There are many support groups like the Epilepsy Foundation to help with the condition.[diseaseinfosearch.org]
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