GEFSP10
MCID: GNR046
MIFTS: 19

Generalized Epilepsy with Febrile Seizures Plus, Type 10 (GEFSP10)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 10

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 10:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 10 57 6
Gefsp10 57 12
Gefs+10 57 12
Generalized Epilepsy with Febrile Seizures Plus Type 10 12
Generalized Epilepsy with Febrile Seizures Plus 10 12
Gefs+, Type 10; Gefs+10 57
Gefs+, Type 10 57

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
onset in first months or years of life
variable severity and expressivity

Inheritance:
autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0111296

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 10

OMIM : 57 Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit. Some patients may have impaired intellectual development or autistic features. Brain imaging is usually normal (summary by Marini et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. (618482)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 10, is also known as gefsp10. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 10 is HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1). Affiliated tissues include brain.

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in HCN1 on chromosome 5p12.

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
febrile seizures
absence seizures
developmental delay (in some patients)
tonic-clonic seizures
various types of seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM:

618482

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 10

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 10:

41
Brain

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 10:

# Title Authors PMID Year
1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 8 71
30351409 2018
2
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability. 8 71
29936235 2018

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 10

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 10:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HCN1 NM_021072.4(HCN1): c.728T> G (p.Met243Arg) single nucleotide variant Pathogenic 5:45645408-45645408 5:45645306-45645306
2 HCN1 NM_021072.4(HCN1): c.1171G> A (p.Gly391Ser) single nucleotide variant Pathogenic 5:45396653-45396653 5:45396551-45396551
3 HCN1 NM_021072.4(HCN1): c.1769G> A (p.Arg590Gln) single nucleotide variant Pathogenic 5:45267205-45267205 5:45267103-45267103
4 HCN1 NM_021072.4(HCN1): c.986G> C (p.Cys329Ser) single nucleotide variant Pathogenic 5:45461973-45461973 5:45461871-45461871
5 HCN1 NM_021072.4(HCN1): c.1240G> A (p.Val414Met) single nucleotide variant Pathogenic 5:45353339-45353339 5:45353237-45353237
6 HCN1 NM_021072.4(HCN1): c.469C> G (p.Leu157Val) single nucleotide variant Pathogenic 5:45645667-45645667 5:45645565-45645565

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 10.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 10

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 10

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 10

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62 PubMed
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69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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