GEFSP10
MCID: GNR046
MIFTS: 25

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

Categories: Eye diseases, 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 56 73 29 6
Gefsp10 56 12 73
Gefs+10 56 12 73
Generalized Epilepsy with Febrile Seizures Plus 10 12 73
Gefs+, Type 10 56 73
Generalised Epilepsy with Febrile Seizures Plus Type 10 12
Generalized Epilepsy with Febrile Seizures Plus Type 10 12
Generalised Epilepsy with Febrile Seizures Plus 10 12
Gefs+, Type 10; Gefs+10 56

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
onset in first months or years of life
variable severity and expressivity

Inheritance:
autosomal dominant


HPO:

31
generalized epilepsy with febrile seizures plus, type 10:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 10

OMIM : 56 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 and temporal lobe, and related phenotypes are intellectual disability and global developmental delay

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

UniProtKB/Swiss-Prot : 73 Generalized epilepsy with febrile seizures plus 10: An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic- clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder.

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

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 microcephaly 31 very rare (1%) HP:0000252
5 autistic behavior 31 very rare (1%) HP:0000729
6 seizure 31 very rare (1%) HP:0001250
7 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
8 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM:

56
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

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

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus, Type 10 29

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

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

40
Brain, Temporal Lobe

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. 6 56
30351409 2018
2
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability. 56 6
29936235 2018
3
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 6
20437590 2010
4
SCN1A Seizure Disorders 6
20301494 2007
5
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 6
17020904 2007
6
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 6
16205844 2005
7
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 6
15710580 2005

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HCN1 NM_021072.4(HCN1):c.728T>G (p.Met243Arg)SNV Pathogenic 635188 rs1561230486 5:45645408-45645408 5:45645306-45645306
2 HCN1 NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)SNV Pathogenic 635189 rs1561139569 5:45396653-45396653 5:45396551-45396551
3 HCN1 NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln)SNV Pathogenic 635190 rs1561081319 5:45267205-45267205 5:45267103-45267103
4 HCN1 NM_021072.4(HCN1):c.986G>C (p.Cys329Ser)SNV Pathogenic 635191 rs1318391259 5:45461973-45461973 5:45461871-45461871
5 HCN1 NM_021072.4(HCN1):c.1240G>A (p.Val414Met)SNV Pathogenic 635192 rs1561120793 5:45353339-45353339 5:45353237-45353237
6 HCN1 NM_021072.4(HCN1):c.469C>G (p.Leu157Val)SNV Pathogenic 635193 rs1561230606 5:45645667-45645667 5:45645565-45645565

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 10:

73
# Symbol AA change Variation ID SNP ID
1 HCN1 p.Met243Arg VAR_082658
2 HCN1 p.Cys329Ser VAR_082664
3 HCN1 p.Gly391Cys VAR_082666
4 HCN1 p.Gly391Ser VAR_082667
5 HCN1 p.Val414Met VAR_082670
6 HCN1 p.Arg590Gln VAR_082671

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
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43 MeSH
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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