So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation
Copyright 2002 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved..
We report the case of a female suffering from resistant partial seizures, which were related to 'cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images. As her son is mentally retarded and has a pachygyria, the doublecortin gene, usually involved in band heterotopia or lissencephaly, was screened for mutations. A missense mutation was identified, shared by both the son and his mother, and a subtle discontinuous subcortical heterotopia was subsequently detected on the mother's MRI. The pathophysiology of epilepsy in this woman is discussed in the light of the role of doublecortin, not only in neuronal migration, but also in axonal growth and dendritic connectivity.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2002 |
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| Erschienen: |
2002 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:11 |
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| Enthalten in: |
Seizure - 11(2002), 4 vom: 10. Juni, Seite 273-7 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
des Portes, V [VerfasserIn] |
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| Anmerkungen: |
Date Completed 10.10.2002 Date Revised 03.12.2021 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM119028026 |
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| 245 | 1 | 0 | |a So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation |
| 264 | 1 | |c 2002 | |
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| 500 | |a Date Revised 03.12.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright 2002 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved. | ||
| 520 | |a We report the case of a female suffering from resistant partial seizures, which were related to 'cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images. As her son is mentally retarded and has a pachygyria, the doublecortin gene, usually involved in band heterotopia or lissencephaly, was screened for mutations. A missense mutation was identified, shared by both the son and his mother, and a subtle discontinuous subcortical heterotopia was subsequently detected on the mother's MRI. The pathophysiology of epilepsy in this woman is discussed in the light of the role of doublecortin, not only in neuronal migration, but also in axonal growth and dendritic connectivity | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Doublecortin Domain Proteins |2 NLM | |
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| 700 | 1 | |a Abaoub, L |e verfasserin |4 aut | |
| 700 | 1 | |a Joannard, A |e verfasserin |4 aut | |
| 700 | 1 | |a Souville, I |e verfasserin |4 aut | |
| 700 | 1 | |a Francis, F |e verfasserin |4 aut | |
| 700 | 1 | |a Pinard, J M |e verfasserin |4 aut | |
| 700 | 1 | |a Chelly, J |e verfasserin |4 aut | |
| 700 | 1 | |a Beldjord, C |e verfasserin |4 aut | |
| 700 | 1 | |a Jouk, P S |e verfasserin |4 aut | |
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