Genetic potassium channel-associated epilepsies: Clinical review of the Kv family.
Eur J Paediatr Neurol
; 24: 105-116, 2020 Jan.
Article
in En
| MEDLINE
| ID: mdl-31932120
ABSTRACT
Next-generation sequencing has enhanced discovery of many disease-associated genes in previously unexplained epilepsies, mainly in developmental and epileptic encephalopathies and familial epilepsies. We now classify these disorders according to the underlying molecular pathways, which encompass a diverse array of cellular and sub-cellular compartments/signalling processes including voltage-gated ion-channel defects. With the aim to develop and increase the use of precision medicine therapies, understanding the pathogenic mechanisms and consequences of disease-causing variants has gained major relevance in clinical care. The super-family of voltage-gated potassium channels is the largest and most diverse family among the ion channels, encompassing approximately 80 genes. Key potassium channelopathies include those affecting the KV, KCa and Kir families, a significant proportion of which have been implicated in neurological disease. As for other ion channel disorders, different pathogenic variants within any individual voltage-gated potassium channel gene tend to affect channel protein function differently, causing heterogeneous clinical phenotypes. The focus of this review is to summarise recent clinical developments regarding the key voltage-gated potassium (KV) family-related epilepsies, which now encompasses approximately 12 established disease-associated genes, from the KCNA-, KCNB-, KCNC-, KCND-, KCNV-, KCNQ- and KCNH-subfamilies.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Potassium Channels, Voltage-Gated
/
Epilepsy
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Eur J Paediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2020
Document type:
Article