Review of published reports confirmed this presentation to be atypical of this developmental lesion. The authors describe their patient and discuss this unexpected association and the relevant reports briefly. [ncbi.nlm.nih.gov]

These predictions are due to mathematical modeling and may differ from what will occur in real neurons where other proteins, some of which may interact with CACNA1H, are present. [en.wikipedia.org]

• Suggestibility

  The inheritance of CAE in this family was not simple Mendelian, but suggestive of complex inheritance with the involvement of at least two genes. [ncbi.nlm.nih.gov]

• Neglect

  Abstract Automatic detections of paroxysms in patients with childhood absence epilepsy have been neglected for several years. [ncbi.nlm.nih.gov]

• Nystagmus

  Apart from borderline intellectual function, and facial coarseness, ataxia and nystagmus probably due to chronic phenytoin intoxication, his neurological examination was unremarkable. [doi.org]

• 3-4 Hz Spikes

  4 years FS, A Bi C‐T spikes CAE Positive IV‐26 5 N 12 months 3 years FS N FS Positive IV‐27 3 N 18 months no FS, A 3 Hz GSW CAE Positive IV‐28 3 N 21 months 3 years FS, A 3 Hz GSW CAE Positive IV‐29 1 N 8 months no FS, afebrile tonic sz N FS + Positive [doi.org]

• Focal Spikes

  PURPOSE: To better understand the nature of the focal spike-wave discharges (FSWDs) and focally led generalized spike-wave discharges (GSWDs) in typical childhood absence epilepsy (CAE) and by implication their nosologic and taxonomic significance. [ncbi.nlm.nih.gov]

• 3-Hz Spike-Wave Discharges

  Abstract The ictal EEG of childhood absence epilepsy is characterized by short duration bursts of generalized 3-Hz spike-wave discharges, which are widely considered to be symmetric and synchronous. [ncbi.nlm.nih.gov]

• Focal Epileptiform Discharges

  Among 214 patients with benign focal epileptiform discharges, 5 patients were identified with recorded EEG seizures (2.3%). [ncbi.nlm.nih.gov]

Patients with a shortest seizure of longer duration were more likely to demonstrate treatment success by both freedom-from-failure (p = 0.02) and SF (p = 0.005) criteria, even after controlling for age, treatment group, and number of seizures, with good [ncbi.nlm.nih.gov]

The long term prognosis of these patients seems to be good with an excellent response to anticonvulsant therapy. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. [ncbi.nlm.nih.gov]

According the ILAE classification of epileptic seizures and epilepsy the etiology could be symptomatic or cryptogenic. [ncbi.nlm.nih.gov]

Epidemiologic data concerning early-onset CAE is scarce. We tried to specifically analyze the early-onset CAE and compare it with typical CAE. [ncbi.nlm.nih.gov]

Epidemiology of different types of epilepsy in school age children of Modena, Italy. Epilepsia 1980 ; 21 : 57 –62. Commission on Classification and Terminology of the International League Against Epilepsy. [doi.org]

However, recent interesting observations in animal models suggest that BCECTS and CAE could be pathophysiologically related and that genetic links could play a large role. [ncbi.nlm.nih.gov]

We found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures. [ncbi.nlm.nih.gov]