A First Study of Inheritance of Epilepsy

SUMMARYThis paper provides a survey of the changing concepts of the etiology of epilepsy from 1860 to 2010, focusing on the first two 50-year periods and outlining more briefly major developments in the past 50 years. Among the concepts reviewed in the first 100 years are: the division between predisposing and exciting causes, idiopathic and genuine epilepsy, organic epilepsy, the concept of ''cause'' being equivalent to ''causal mechanism,'' Russell Reynolds etiological classification, the neurological taint and theories of degeneration, the self-perpetuating nature of seizures, reflex theories of etiology, autointoxication, heredity and eugenics, epilepsy due to brain disorders, the role of EEG and of hippocampal sclerosis, psychological theories of causation, and the multifactorial view of epilepsy etiology. In the past 50 years, the major advances in studying causation in epilepsy have been: clinical biochemistry, neuroimaging, molecular genetics, studies of mechanisms of epilepsy, better statistical methodologies and classification. A number of general observations can be made: the identification of ''cause'' is not as simple as it might at first appear; progress in the study of causation has been often erratic and travelled up many cul-de-sacs; theories of causation are heavily influenced by societal influences and fashion, and is also heavily dependent on applied methodologies; the recently explored possibility that the underlying inherited mechanisms of epilepsy are shared with other neuropsychiatric conditions is in effect a reinvention of the concept of the neurological trait, and this has ethical and social implications. Considering and classifying cause in terms of causal mechanism, as was suggested by Hughlings Jackson, is an ultimate goal.

Section: Concepts Of Etiology 1910–1960mentioning

confidence: 99%

The causes of epilepsy: Changing concepts of etiology of epilepsy over the past 150 years

Shorvon

2011

“…The instructions to field workers regarding how best to interview patients and families in order to obtain maximum pedigree/family history are notable for the degree of allowable and even suggested manipulation. With support from the ERO, Davenport and Weeks coauthored the first study of heredity of epilepsy, performed at the New Jersey Village, which concluded that epilepsy and feeble‐mindedness were manifestations of a common defect due to ‘the absence of a protoplasmic factor that determines complete nervous development” (Davenport & Weeks, 1911). This report was then distributed widely by Laughlin to hospital and institutional directors (Black, 2003b).…”

Section: Eugenics In America Epilepsy and The New Jersey Village Fomentioning

confidence: 99%

“…The pedigrees and their commentary are informative (Fig. 10) (Davenport & Weeks, 1911). What was the early view regarding the appropriate response to the stated rising genetic threat posed by epilepsy?…”

Section: Eugenics In America Epilepsy and The New Jersey Village Fomentioning

confidence: 99%

100 years of Epilepsia: Landmark papers and their influence in neuropsychology and neuropsychiatry

Hermann

2010

SUMMARYAs part of the 2009 International League Against Epilepsy (ILAE) Centenary Celebration, a special symposium was dedicated to Epilepsia (100 Years of Epilepsia: Landmark Papers and Their Influence). The Associate Editors were asked to identify a particularly salient and meaningful paper in their areas of expertise. From the content areas of neuropsychology and neuropsychiatry two very interesting papers were identified using quite different ascertainment techniques. One paper addressed the problem of psychosis in temporal lobe epilepsy, whereas the other represents the first paper to appear in Epilepsia presenting quantitative assessment of cognitive status in epilepsy. These two papers are reviewed in detail and placed in historical context.

“…There is evidence of a genetic factor in idiopathic epilepsy. Most of the inheritance patterns have been postulated to account for the transmission of the seizure tendency, including a polygenic modal (Suboi, 1976), autosomal dominant (Davenport and Weeks, 1911;Andermann, 1972;Meyer, 1973), autosomal dominant with reduced penetrance (Brimani, 1976), and autosomal recessive (Hurst, 1963).…”

mentioning

confidence: 99%

HLA Antigens and Idiopathic Epilepsy

Hafez¹,

Nagaty²,

Saied³

1985

Fifty-two mentally normal Egyptian children with idiopathic epilepsy were human leukocyte antigen (HLA) typed. They were divided into two subgroups: generalized tonic-clonic seizures (36 cases) and absences (16 cases). When the frequencies of HLA antigens were compared statistically with those of 120 normal controls, HLA-A9 was found to be significantly higher in the total epilepsy group and the two subgroups. This finding, together with the low HLA-A9 gene frequency in our group of normal Egyptians as compared with other ethnic populations, strongly suggests an association between antigen A9 and one or more of the polygenes controlling the development of idiopathic epilepsy. The relative risk indicated that persons having antigen A9 are 16 times more susceptible to epilepsy than persons lacking it.