Abstract
The search for genetic causes of congenital brain malformations, severe epilepsy and mental
retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of
the intellectual disabilities, seizures and the underlying brain malformation may be of psychological
value for the family, and it is essential for proper genetic counselling. The human brain is one of the
most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the
human genome are involved in its development, which means that thousands of genes could be
candidate genes for developmental brain defects. The overall aim of the present study has been to
identify new candidate genes or predisposing factors involved in congenital brain malformations in
epilepsy patients.
retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of
the intellectual disabilities, seizures and the underlying brain malformation may be of psychological
value for the family, and it is essential for proper genetic counselling. The human brain is one of the
most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the
human genome are involved in its development, which means that thousands of genes could be
candidate genes for developmental brain defects. The overall aim of the present study has been to
identify new candidate genes or predisposing factors involved in congenital brain malformations in
epilepsy patients.
| Original language | English |
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| Publication status | Published - 2008 |
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