منابع مشابه
Genetics of inherited human epilepsies
Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosi...
متن کاملChildhood epilepsies
2. Saleh is a 2-year-old male who presented with a self-aborted generalized tonic clonic seizure, which lasted for few minutes with high-grade fever due to pharyngitis. His father who is now a mathematics teacher, used to have seizures with fever between ages 2-4 years. Saleh’s mother is asking whether her child is going to be epileptic in future or not. Best response is that you would tell her...
متن کاملThe genetics of epilepsies.
OBJECTIVES To discuss some of the clinical and molecular genetic aspects of new discoveries in the field of the genetics of the epilepsies and relate these with relevant clues for a better understanding of the mechanisms underlying some of the monogenic epilepsy syndromes. SOURCES Many study designs have been performed over the years and these include family-based studies, genetic-epidemiolog...
متن کاملThe Epilepsies in Childhood.
A convulsion or major fit is a sudden outburst of motor spasm, or involuntary movement, of the whole or of part of the body, usually associated with loss of consciousness. In a minor fit there is a loss or dimming of consciousness without muscular twitching. The mechanism immediately responsible for the fit is generally accepted to be an excessive discharge of cortical neurones, in a state of p...
متن کاملNocturnal epilepsies in adults
We evaluated the clinical characteristics and the electroencephalographic (EEG) findings by long video-EEG monitoring in 64 successive patients with definite nocturnal seizures. Mental state, neurological examination, neuroimaging and EEG background were normal in all patients. Classification of epilepsies was possible in 42 out of 64 (66%) patients according to the revised Classification of Ep...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Bezmialem Science
سال: 2020
ISSN: 2148-2373
DOI: 10.14235/bas.galenos.2019.3036