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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease childhood absence epilepsy
Comorbidity C0014544|epilepsy
Sentences 11
PubMedID- 19841906 Ptz seizure test, (3) amygdala-kindled seizures and (4) the genetic absence epilepsy rat of strasbourg model of absence seizures.
PubMedID- 21354269 Morphometric changes and molecular mechanisms in rat models of idiopathic generalized epilepsy with absence seizures.
PubMedID- 24358150 Here we report on abolished expression of α2δ-2 in a patient, offspring to consanguineous parents characterized by the association of epilepsy with also absence seizures, dyskinetic movements and cerebellar atrophy, a clinical picture closely resembling the phenotype displayed by the ducky mouse.
PubMedID- 22988820 Purpose: lamotrigine (ltg) is an effective clinical treatment for epilepsy associated with absence seizures.
PubMedID- 24002088 epilepsy with petit mal seizures appeared at the age of 7 months.
PubMedID- 24891901 [8] it is true that epilepsy with the absence seizures is among those most frequently described in glut1 deficiency syndrome, but more often it has an early onset (before the age of 4), while in the forms with later onset, as in our patient, the combination of drug-resistant absence seizures (without other types of seizures) and mental retardation, present in the case we have reported, has not been described.
PubMedID- 26411767 The endocannabinoid signaling pathways are blocked in severe chronic epilepsy and induction of absence epilepsy is reduced by down regulation of cb1 receptors in the endocannabinoid system although there are also conflicting views on the role of trpv1 channels in the induction of epilepsy [71].
PubMedID- 25564312 Purpose: to assess if absence seizures (ass) occur in patients with myoclonic epilepsy of infancy (mei).
PubMedID- 21680209 This report highlights that lvt may aggravate epilepsy with absence seizures.
PubMedID- 25661285 Objective: hyperventilation induces absence seizures in children with absence epilepsy, and routine electroencephalography studies include three minutes of hyperventilation.
PubMedID- 24359274 Significance: this follow-up study confirms that hn represents an epilepsy disorder, possibly of the atypical absence type with dynamic development over time.

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