PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum
Biallelic loss-of-function mutations of phospholipase C-β1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozyg...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Schoonjans, An-Sofie [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Schlagwörter: |
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| Umfang: |
6 |
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| Übergeordnetes Werk: |
Enthalten in: Biologically active vallesamine, strychnan, and rhazinilam alkaloids from - Lim, Jun-Lee ELSEVIER, 2015, ejpn : official journal of the European Paediatric Neurology Society, Burlington, Mass |
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| Übergeordnetes Werk: |
volume:20 ; year:2016 ; number:3 ; pages:474-479 ; extent:6 |
| Links: |
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| DOI / URN: |
10.1016/j.ejpn.2016.01.002 |
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10.1016/j.ejpn.2016.01.002 doi GBVA2016019000006.pica (DE-627)ELV019688407 (ELSEVIER)S1090-3798(16)00007-6 DE-627 ger DE-627 rakwb eng 610 610 DE-600 580 540 VZ BIODIV DE-30 fid 42.00 bkl Schoonjans, An-Sofie verfasserin aut PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum 2016 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Biallelic loss-of-function mutations of phospholipase C-β1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozygous deletion in combination with a heterozygous splice site variant. All patients had intractable epilepsy and a severe developmental delay. Copy number variant (CNV) Elsevier Phospholipase C beta 1 (PLCB1) Elsevier Early onset epileptic encephalopathy Elsevier Meuwissen, Marije oth Reyniers, Edwin oth Kooy, Frank oth Ceulemans, Berten oth Enthalten in Harcourt Lim, Jun-Lee ELSEVIER Biologically active vallesamine, strychnan, and rhazinilam alkaloids from 2015 ejpn : official journal of the European Paediatric Neurology Society Burlington, Mass (DE-627)ELV001176439 volume:20 year:2016 number:3 pages:474-479 extent:6 https://doi.org/10.1016/j.ejpn.2016.01.002 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 42.00 Biologie: Allgemeines VZ AR 20 2016 3 474-479 6 045F 610 |
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Biallelic loss-of-function mutations of phospholipase C-β1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozygous deletion in combination with a heterozygous splice site variant. All patients had intractable epilepsy and a severe developmental delay. |
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Biallelic loss-of-function mutations of phospholipase C-β1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozygous deletion in combination with a heterozygous splice site variant. All patients had intractable epilepsy and a severe developmental delay. |
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Biallelic loss-of-function mutations of phospholipase C-β1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozygous deletion in combination with a heterozygous splice site variant. All patients had intractable epilepsy and a severe developmental delay. |
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| doi_str |
10.1016/j.ejpn.2016.01.002 |
| up_date |
2024-07-06T22:06:09.771Z |
| _version_ |
1803869035978293248 |
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7.3995275 |