Absence (Petit-Mal) Seizure
Wiki Number: TW-001
Diagnosis: Absence (Petit Mal) Seizure-Epilepsy
Symptoms: Typically 20 seconds, until return of consciousness with no lethargy following
Medications: Ethosuximide, Valproate, Gabapentin
4 CURRENT ARTICLES
The world-wide medical research
reports chosen for each diagnosis
Clicking each title opens the
PubMed article’s summary-abstract.
- New genes involved in Angelman syndrome-like: Expanding the genetic spectrumby Cinthia Aguilera on October 15, 2021
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result,...
- Epilepsy in "Sunflower syndrome": electroclinical features, therapeutic response, and long-term follow-upby Vincenzo Belcastro on October 15, 2021
CONCLUSION: While the clinical and EEG characteristics of SFS are well defined, the best therapeutic approaches are still under debate. Our data confirms a high rate of drug-resistance and frequent need of polytherapy. Of note, in drug-resistant patients, lenses (but not ASM) were able to suppress PPR in our patients while wearing lenses. Regarding the role of lenses, we do not only rely on the PPR reduction but also clinically by the reduction of seizures. Although additional data are needed,...
- Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patientsby J Y Chen on October 14, 2021
Objective: To summarize the genotypes and clinical features of neonatal-onset genetic epilepsy. Methods: Patients (114 cases) with identified gene variants were collected from May 2013 to May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic and neuroimaging characteristics were analyzed. Results: A total of 141 neonatal-onset epilepsy patients with identified gene variants were enrolled, including 76 males and 65 females and involving 33...
- Unilateral abdominal clonic jerking as an epileptic phenomenonby Adam Patterson on October 14, 2021
Unilateral abdominal wall clonic seizures are a rare manifestation of epilepsy. We report three cases of focal aware seizures manifesting as unilateral abdominal clonic motor movements. Standard EEG for patients with focal motor abdominal seizures is often unrevealing, which can make the diagnosis difficult. We report the first case of intracranial EEG in the diagnosis of a patients with this type of semiology during a focal seizure. In the absence of an electroclinical seizure verified by...