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A Clinical Guide to Epileptic Syndromes and their Treatment pp 423–434Cite as

Familial (autosomal dominant) focal epilepsies

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Abstract

In the past two decades, significant progress in molecular and statistical genetics has led to breakthroughs in the mapping and identification of gene variants of genetic diseases that follow Mendelian patterns of inheritance in humans. Of more than 500 genetic loci associated with Mendelian genetic diseases that have been mapped to specific chromosomal locations, almost 100 gene variants have been cloned on the basis of their position. The cloning and sequencing of these gene variants has helped elucidate the function and cellular biology of their gene products.

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  1. C P Panayiotopoulos
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Panayiotopoulos, C.P. (2010). Familial (autosomal dominant) focal epilepsies. In: A Clinical Guide to Epileptic Syndromes and their Treatment. Springer, London. https://doi.org/10.1007/978-1-84628-644-5_14

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  • DOI: https://doi.org/10.1007/978-1-84628-644-5_14

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84628-643-8

  • Online ISBN: 978-1-84628-644-5

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