scholarly journals The Syndrome of Absence Status Epilepsy: Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Leonilda Bilo ◽  
Sabina Pappatà ◽  
Roberto De Simone ◽  
Roberta Meo

The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed.

Epilepsia ◽  
2009 ◽  
Vol 50 ◽  
pp. 15-19 ◽  
Author(s):  
Salvatore Striano ◽  
Giuseppe Capovilla ◽  
Vito Sofia ◽  
Antonino Romeo ◽  
Guido Rubboli ◽  
...  

Epilepsia ◽  
2014 ◽  
Vol 55 (8) ◽  
pp. 1157-1169 ◽  
Author(s):  
Udaya Seneviratne ◽  
Mark Cook ◽  
Wendyl D'Souza

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Scott J. Adams ◽  
Melody Wong ◽  
Tahereh Haji ◽  
Shahmir Sohail ◽  
Salah Almubarak

Absence status epilepticus is characterized by a prolonged state of impaired consciousness or altered sensorium with generalized electroencephalographic abnormalities. It is most commonly diagnosed in patients with known idiopathic generalized epilepsy; however, it may also be the first presentation of epilepsy. Due to the subtle and variable manifestations of the condition, absence status epilepticus may be underrecognized, particularly in children. We present the case of an 8-year-old boy who experienced two episodes of prolonged altered mental status, subsequently determined to be absence status epilepticus with idiopathic generalized epilepsy with phantom absences. We discuss the classification, pathophysiology, clinical presentation, and electroencephalographic findings of pediatric absence status epilepticus and provide a practical overview for management.


2019 ◽  
Vol 160 (21) ◽  
pp. 835-838 ◽  
Author(s):  
Ágnes Till ◽  
Renáta Szalai ◽  
Márta Hegyi ◽  
Erzsébet Kövesdi ◽  
Gergely Büki ◽  
...  

Abstract: The advances in molecular genetic methods has lead to the discovery of the genetic alterations that underlie the etiology of most diseases previously held to be idiopathic. Targeted genetic examination of a pediatric male patient showing a normal intellect, an extended area of skin hypopigmentation, and suffering from generalized epilepsy displaying a switch in epilepsy syndrome during the course of the disease towards a neurocutaneous syndrome was unsuccessful. Whole-exome sequencing identified a heterozygous missense mutation in a potassium chloride cotransporter gene, which together with the phenotype underscores the diagnosis of an epilepsy syndrome known in the literature as idiopathic generalized epilepsy type 14. Orv Hetil. 2019; 160(21): 835–838.


Seizure ◽  
1999 ◽  
Vol 8 (5) ◽  
pp. 314-317 ◽  
Author(s):  
S Knake ◽  
H.M Hamer ◽  
U Schomburg ◽  
W.H Oertel ◽  
F Rosenow

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