Abstract:
: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.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Hedrich UBS,Lauxmann S,Lerche Hdoi
10.1111/epi.14731subject
Has Abstractpub_date
2019-12-01 00:00:00pages
S68-S76eissn
0013-9580issn
1528-1167journal_volume
60 Suppl 3pub_type
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