SCN2A channelopathies : Mechanisms and models
Wiley Periodicals, Inc. © 2019 International League Against Epilepsy..
Variants in the SCN2A gene, encoding the voltage-gated sodium channel NaV 1.2, cause a variety of neuropsychiatric syndromes with different severity ranging from self-limiting epilepsies with early onset to developmental and epileptic encephalopathy with early or late onset and intellectual disability (ID), as well as ID or autism without seizures. Functional analysis of channel defects demonstrated a genotype-phenotype correlation and suggested effective treatment options for one group of affected patients carrying gain-of-function variants. Here, we sum up the functional mechanisms underlying different phenotypes of patients with SCN2A channelopathies and present currently available models that can help in understanding SCN2A-related disorders.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2019 |
|---|---|
| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:60 Suppl 3 |
|---|---|
| Enthalten in: |
Epilepsia - 60 Suppl 3(2019) vom: 15. Dez., Seite S68-S76 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Hedrich, Ulrike B S [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 23.04.2020 Date Revised 23.04.2020 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.1111/epi.14731 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM305036661 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM305036661 | ||
| 003 | DE-627 | ||
| 005 | 20231225120305.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2019 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/epi.14731 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1016.xml |
| 035 | |a (DE-627)NLM305036661 | ||
| 035 | |a (NLM)31904120 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Hedrich, Ulrike B S |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a SCN2A channelopathies |b Mechanisms and models |
| 264 | 1 | |c 2019 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 23.04.2020 | ||
| 500 | |a Date Revised 23.04.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Wiley Periodicals, Inc. © 2019 International League Against Epilepsy. | ||
| 520 | |a Variants in the SCN2A gene, encoding the voltage-gated sodium channel NaV 1.2, cause a variety of neuropsychiatric syndromes with different severity ranging from self-limiting epilepsies with early onset to developmental and epileptic encephalopathy with early or late onset and intellectual disability (ID), as well as ID or autism without seizures. Functional analysis of channel defects demonstrated a genotype-phenotype correlation and suggested effective treatment options for one group of affected patients carrying gain-of-function variants. Here, we sum up the functional mechanisms underlying different phenotypes of patients with SCN2A channelopathies and present currently available models that can help in understanding SCN2A-related disorders | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a NaV1.2 channel defect | |
| 650 | 4 | |a SCN2A channelopathies | |
| 650 | 4 | |a developmental and epileptic encephalopathy | |
| 650 | 4 | |a genotype-phenotype correlation | |
| 650 | 4 | |a pathomechanisms | |
| 650 | 7 | |a NAV1.2 Voltage-Gated Sodium Channel |2 NLM | |
| 650 | 7 | |a SCN2A protein, human |2 NLM | |
| 700 | 1 | |a Lauxmann, Stephan |e verfasserin |4 aut | |
| 700 | 1 | |a Lerche, Holger |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Epilepsia |d 1954 |g 60 Suppl 3(2019) vom: 15. Dez., Seite S68-S76 |w (DE-627)NLM000016195 |x 1528-1167 |7 nnns |
| 773 | 1 | 8 | |g volume:60 Suppl 3 |g year:2019 |g day:15 |g month:12 |g pages:S68-S76 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1111/epi.14731 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 60 Suppl 3 |j 2019 |b 15 |c 12 |h S68-S76 | ||