Genetic epilepsy with febrile seizures plus – an overview
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Madalina Radu [verfasserIn] Eugenia Roza [verfasserIn] Daniel Mihai Teleanu [verfasserIn] Raluca Ioana Teleanu [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
In: Romanian Journal of Neurology - Amaltea Medical Publishing House, 2019, 20(2021), 1, Seite 21-27 |
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| Übergeordnetes Werk: |
volume:20 ; year:2021 ; number:1 ; pages:21-27 |
| Links: |
Link aufrufen |
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| DOI / URN: |
10.37897/RJN.2021.1.3 |
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| Katalog-ID: |
DOAJ002781522 |
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| 520 | |a Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. | ||
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10.37897/RJN.2021.1.3 doi (DE-627)DOAJ002781522 (DE-599)DOAJb8b4c4c170a84d759f13c0068211a9d3 DE-627 ger DE-627 rakwb eng RC346-429 Madalina Radu verfasserin aut Genetic epilepsy with febrile seizures plus – an overview 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. gefs+ febrile seizure scn1a genetic epilepsy Medicine R Neurology. Diseases of the nervous system Eugenia Roza verfasserin aut Daniel Mihai Teleanu verfasserin aut Raluca Ioana Teleanu verfasserin aut In Romanian Journal of Neurology Amaltea Medical Publishing House, 2019 20(2021), 1, Seite 21-27 (DE-627)634381792 (DE-600)2570964-1 20696094 nnns volume:20 year:2021 number:1 pages:21-27 https://doi.org/10.37897/RJN.2021.1.3 kostenfrei https://doaj.org/article/b8b4c4c170a84d759f13c0068211a9d3 kostenfrei https://rjn.com.ro/articles/2021.1/RJN_2021_1_Art-03.pdf kostenfrei https://doaj.org/toc/1843-8148 Journal toc kostenfrei https://doaj.org/toc/2069-6094 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_206 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4305 AR 20 2021 1 21-27 |
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10.37897/RJN.2021.1.3 doi (DE-627)DOAJ002781522 (DE-599)DOAJb8b4c4c170a84d759f13c0068211a9d3 DE-627 ger DE-627 rakwb eng RC346-429 Madalina Radu verfasserin aut Genetic epilepsy with febrile seizures plus – an overview 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. gefs+ febrile seizure scn1a genetic epilepsy Medicine R Neurology. Diseases of the nervous system Eugenia Roza verfasserin aut Daniel Mihai Teleanu verfasserin aut Raluca Ioana Teleanu verfasserin aut In Romanian Journal of Neurology Amaltea Medical Publishing House, 2019 20(2021), 1, Seite 21-27 (DE-627)634381792 (DE-600)2570964-1 20696094 nnns volume:20 year:2021 number:1 pages:21-27 https://doi.org/10.37897/RJN.2021.1.3 kostenfrei https://doaj.org/article/b8b4c4c170a84d759f13c0068211a9d3 kostenfrei https://rjn.com.ro/articles/2021.1/RJN_2021_1_Art-03.pdf kostenfrei https://doaj.org/toc/1843-8148 Journal toc kostenfrei https://doaj.org/toc/2069-6094 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_206 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4305 AR 20 2021 1 21-27 |
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10.37897/RJN.2021.1.3 doi (DE-627)DOAJ002781522 (DE-599)DOAJb8b4c4c170a84d759f13c0068211a9d3 DE-627 ger DE-627 rakwb eng RC346-429 Madalina Radu verfasserin aut Genetic epilepsy with febrile seizures plus – an overview 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. gefs+ febrile seizure scn1a genetic epilepsy Medicine R Neurology. Diseases of the nervous system Eugenia Roza verfasserin aut Daniel Mihai Teleanu verfasserin aut Raluca Ioana Teleanu verfasserin aut In Romanian Journal of Neurology Amaltea Medical Publishing House, 2019 20(2021), 1, Seite 21-27 (DE-627)634381792 (DE-600)2570964-1 20696094 nnns volume:20 year:2021 number:1 pages:21-27 https://doi.org/10.37897/RJN.2021.1.3 kostenfrei https://doaj.org/article/b8b4c4c170a84d759f13c0068211a9d3 kostenfrei https://rjn.com.ro/articles/2021.1/RJN_2021_1_Art-03.pdf kostenfrei https://doaj.org/toc/1843-8148 Journal toc kostenfrei https://doaj.org/toc/2069-6094 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_206 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4305 AR 20 2021 1 21-27 |
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10.37897/RJN.2021.1.3 doi (DE-627)DOAJ002781522 (DE-599)DOAJb8b4c4c170a84d759f13c0068211a9d3 DE-627 ger DE-627 rakwb eng RC346-429 Madalina Radu verfasserin aut Genetic epilepsy with febrile seizures plus – an overview 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. gefs+ febrile seizure scn1a genetic epilepsy Medicine R Neurology. Diseases of the nervous system Eugenia Roza verfasserin aut Daniel Mihai Teleanu verfasserin aut Raluca Ioana Teleanu verfasserin aut In Romanian Journal of Neurology Amaltea Medical Publishing House, 2019 20(2021), 1, Seite 21-27 (DE-627)634381792 (DE-600)2570964-1 20696094 nnns volume:20 year:2021 number:1 pages:21-27 https://doi.org/10.37897/RJN.2021.1.3 kostenfrei https://doaj.org/article/b8b4c4c170a84d759f13c0068211a9d3 kostenfrei https://rjn.com.ro/articles/2021.1/RJN_2021_1_Art-03.pdf kostenfrei https://doaj.org/toc/1843-8148 Journal toc kostenfrei https://doaj.org/toc/2069-6094 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_206 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4305 AR 20 2021 1 21-27 |
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10.37897/RJN.2021.1.3 doi (DE-627)DOAJ002781522 (DE-599)DOAJb8b4c4c170a84d759f13c0068211a9d3 DE-627 ger DE-627 rakwb eng RC346-429 Madalina Radu verfasserin aut Genetic epilepsy with febrile seizures plus – an overview 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. gefs+ febrile seizure scn1a genetic epilepsy Medicine R Neurology. Diseases of the nervous system Eugenia Roza verfasserin aut Daniel Mihai Teleanu verfasserin aut Raluca Ioana Teleanu verfasserin aut In Romanian Journal of Neurology Amaltea Medical Publishing House, 2019 20(2021), 1, Seite 21-27 (DE-627)634381792 (DE-600)2570964-1 20696094 nnns volume:20 year:2021 number:1 pages:21-27 https://doi.org/10.37897/RJN.2021.1.3 kostenfrei https://doaj.org/article/b8b4c4c170a84d759f13c0068211a9d3 kostenfrei https://rjn.com.ro/articles/2021.1/RJN_2021_1_Art-03.pdf kostenfrei https://doaj.org/toc/1843-8148 Journal toc kostenfrei https://doaj.org/toc/2069-6094 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_206 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4305 AR 20 2021 1 21-27 |
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Genetic epilepsy with febrile seizures plus – an overview |
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Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. |
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Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. |
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Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. |
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