Paroxysmal electroencephalographic abnormalities genetically transmitted: one family description. 1989

R Silvestri, and R Ciliberto, and P De Domenico, and N Lombardo, and W Cavallari, and G Longo, and R Di Perri
Institute of Neurological and Neurosurgical Sciences, University of Messina, Italy.

A 10-year-old girl came to our observation since a general rule-out electroencephalogram (EEG) had showed, in absence of any clinical manifestation, generalized and symmetrical 3 c/s spike-and-wave bursts, whose duration was longer than 3 s. The subject, only daughter born from her mother's first marriage, had no family history of neurological diseases; her physical and neuropsychological examinations were normal. A polysomnographic recording showed, during sleep, the same abnormalities observed during wakefulness. Also on this occasion, there were no related clinical manifestations. Subsequent recordings were performed on her 33-year-old mother and on two siblings, 3 and 2 years old, respectively, born from their mother's second marriage, all normal by physical and neuropsychological examinations, with no referral about clinical seizures. Among them, the 3-year-old sister showed asymptomatic left rolandic spikes, while the 2-year-old boy, whose EEG was firstly normal, displayed, 1 year later, a burst of generalized 3 c/s spike-and-wave paroxysmal activity on a 4-7 c/s background activity. The possible unitary genetic transmission of paroxysmal EEG abnormalities is discussed.

UI MeSH Term Description Entries
D008297 Male Males
D001927 Brain Diseases Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM. Intracranial Central Nervous System Disorders,Brain Disorders,CNS Disorders, Intracranial,Central Nervous System Disorders, Intracranial,Central Nervous System Intracranial Disorders,Encephalon Diseases,Encephalopathy,Intracranial CNS Disorders,Brain Disease,Brain Disorder,CNS Disorder, Intracranial,Encephalon Disease,Encephalopathies,Intracranial CNS Disorder
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004569 Electroencephalography Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. EEG,Electroencephalogram,Electroencephalograms
D004827 Epilepsy A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) Aura,Awakening Epilepsy,Seizure Disorder,Epilepsy, Cryptogenic,Auras,Cryptogenic Epilepsies,Cryptogenic Epilepsy,Epilepsies,Epilepsies, Cryptogenic,Epilepsy, Awakening,Seizure Disorders
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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