Gene Symbol:
SCN1A
HGNC:10585
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q24.3
Filters:

Definitive classifications

developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
07/22/2015
Evaluated
11/25/2020
Submitted
developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
08/05/2015
Evaluated
12/24/2020
Submitted
generalized epilepsy with febrile seizures plus, type 2
Submitted as: OMIM:604403
AD
04/02/2018
Evaluated
12/24/2020
Submitted
developmental and epileptic encephalopathy, 6
Submitted as: OMIM:607208
AD
06/22/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
generalized epilepsy with febrile seizures plus
AD
09/06/2019
Evaluated
01/16/2023
Submitted

Strong classifications

migraine, familial hemiplegic, 3
Submitted as: OMIM:609634
AD
08/05/2015
Evaluated
12/24/2020
Submitted
developmental and epileptic encephalopathy
AD
10/25/2019
Evaluated
01/16/2023
Submitted

Moderate classifications

AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missen... Read more
familial hemiplegic migraine
AD
09/14/2021
Evaluated
01/16/2023
Submitted

Supportive classifications

Lennox-Gastaut syndrome
Submitted as: Orphanet:2382
AD
09/14/2021
Evaluated
09/14/2021
Submitted
myoclonic-astastic epilepsy
Submitted as: Orphanet:1942
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted
familial or sporadic hemiplegic migraine
Submitted as: Orphanet:569
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Dravet syndrome
Submitted as: Orphanet:33069
AD
09/14/2021
Evaluated
09/14/2021
Submitted
generalized epilepsy with febrile seizures plus
Submitted as: Orphanet:36387
AD
09/14/2021
Evaluated
09/14/2021
Submitted
malignant migrating partial seizures of infancy
Submitted as: Orphanet:293181
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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