ETL8
MCID: EPL152
MIFTS: 17

Epilepsy, Familial Temporal Lobe, 8 (ETL8)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 8

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 8:

Name: Epilepsy, Familial Temporal Lobe, 8 57 75 29 6
Etl8 57 12 75
Epilepsy, Temporal Lobe, Familial, Type 8 40
Familial Temporal Lobe Epilepsy 8 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
favorable response to antiepileptic medication
onset in teenage years
a pair of monozygotic twins have been reported (last curated july 2015)


HPO:

32
epilepsy, familial temporal lobe, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616461
Disease Ontology 12 DOID:0060754
MeSH 44 D004833
SNOMED-CT via HPO 69 263681008 4103001

Summaries for Epilepsy, Familial Temporal Lobe, 8

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 8, is also known as etl8. An important gene associated with Epilepsy, Familial Temporal Lobe, 8 is GAL (Galanin And GMAP Prepropeptide). Affiliated tissues include temporal lobe, and related phenotype is focal impaired awareness seizure.

UniProtKB/Swiss-Prot : 75 Epilepsy, familial temporal lobe, 8: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.

Description from OMIM: 616461

Related Diseases for Epilepsy, Familial Temporal Lobe, 8

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 8

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
complex partial seizures
temporal lobe epilepsy
secondary generalization
aura


Clinical features from OMIM:

616461

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 8:

32
# Description HPO Frequency HPO Source Accession
1 focal impaired awareness seizure 32 HP:0002384

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 8

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 8

Genetic Tests for Epilepsy, Familial Temporal Lobe, 8

Genetic tests related to Epilepsy, Familial Temporal Lobe, 8:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Temporal Lobe, 8 29 GAL

Anatomical Context for Epilepsy, Familial Temporal Lobe, 8

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 8:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 8

Variations for Epilepsy, Familial Temporal Lobe, 8

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 8:

75
# Symbol AA change Variation ID SNP ID
1 GAL p.Ala39Glu VAR_074671 rs105751766

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 8:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAL NM_015973.4(GAL): c.116C> A (p.Ala39Glu) single nucleotide variant Pathogenic rs1057517661 GRCh37 Chromosome 11, 68453096: 68453096
2 GAL NM_015973.4(GAL): c.116C> A (p.Ala39Glu) single nucleotide variant Pathogenic rs1057517661 GRCh38 Chromosome 11, 68685628: 68685628
3 GAL NM_015973.4(GAL): c.47C> T (p.Ala16Val) single nucleotide variant Benign rs34725707 GRCh38 Chromosome 11, 68684970: 68684970
4 GAL NM_015973.4(GAL): c.47C> T (p.Ala16Val) single nucleotide variant Benign rs34725707 GRCh37 Chromosome 11, 68452438: 68452438
5 GAL NM_015973.4(GAL): c.66G> A (p.Ala22=) single nucleotide variant Likely benign rs542684427 GRCh38 Chromosome 11, 68684989: 68684989
6 GAL NM_015973.4(GAL): c.66G> A (p.Ala22=) single nucleotide variant Likely benign rs542684427 GRCh37 Chromosome 11, 68452457: 68452457
7 GAL NM_015973.4(GAL): c.263G> A (p.Arg88His) single nucleotide variant Uncertain significance rs778530092 GRCh38 Chromosome 11, 68688888: 68688888
8 GAL NM_015973.4(GAL): c.263G> A (p.Arg88His) single nucleotide variant Uncertain significance rs778530092 GRCh37 Chromosome 11, 68456356: 68456356
9 GAL NM_015973.4(GAL): c.106C> T (p.Leu36=) single nucleotide variant Likely benign rs528520052 GRCh38 Chromosome 11, 68685618: 68685618
10 GAL NM_015973.4(GAL): c.106C> T (p.Leu36=) single nucleotide variant Likely benign rs528520052 GRCh37 Chromosome 11, 68453086: 68453086
11 GAL NM_015973.4(GAL): c.205G> A (p.Glu69Lys) single nucleotide variant Uncertain significance rs571107777 GRCh38 Chromosome 11, 68688082: 68688082
12 GAL NM_015973.4(GAL): c.205G> A (p.Glu69Lys) single nucleotide variant Uncertain significance rs571107777 GRCh37 Chromosome 11, 68455550: 68455550
13 GAL NM_015973.4(GAL): c.55T> C (p.Ser19Pro) single nucleotide variant Uncertain significance rs746008445 GRCh38 Chromosome 11, 68684978: 68684978
14 GAL NM_015973.4(GAL): c.55T> C (p.Ser19Pro) single nucleotide variant Uncertain significance rs746008445 GRCh37 Chromosome 11, 68452446: 68452446
15 GAL NM_015973.4(GAL): c.361G> A (p.Glu121Lys) single nucleotide variant Benign rs139127322 GRCh38 Chromosome 11, 68690976: 68690976
16 GAL NM_015973.4(GAL): c.361G> A (p.Glu121Lys) single nucleotide variant Benign rs139127322 GRCh37 Chromosome 11, 68458444: 68458444
17 GAL NM_015973.4(GAL): c.364C> T (p.Arg122Trp) single nucleotide variant Benign rs36058701 GRCh38 Chromosome 11, 68690979: 68690979
18 GAL NM_015973.4(GAL): c.364C> T (p.Arg122Trp) single nucleotide variant Benign rs36058701 GRCh37 Chromosome 11, 68458447: 68458447
19 GAL NM_015973.4(GAL): c.140C> T (p.Ala47Val) single nucleotide variant Uncertain significance rs374472664 GRCh38 Chromosome 11, 68688017: 68688017
20 GAL NM_015973.4(GAL): c.140C> T (p.Ala47Val) single nucleotide variant Uncertain significance rs374472664 GRCh37 Chromosome 11, 68455485: 68455485
21 GAL NM_015973.4(GAL): c.253A> G (p.Asn85Asp) single nucleotide variant Likely benign rs145825008 GRCh38 Chromosome 11, 68688878: 68688878
22 GAL NM_015973.4(GAL): c.253A> G (p.Asn85Asp) single nucleotide variant Likely benign rs145825008 GRCh37 Chromosome 11, 68456346: 68456346
23 GAL NM_015973.4(GAL): c.306C> T (p.Ala102=) single nucleotide variant Likely benign rs147122838 GRCh37 Chromosome 11, 68458389: 68458389
24 GAL NM_015973.4(GAL): c.306C> T (p.Ala102=) single nucleotide variant Likely benign rs147122838 GRCh38 Chromosome 11, 68690921: 68690921
25 GAL NM_015973.4(GAL): c.177C> G (p.Gly59=) single nucleotide variant Likely benign rs533111349 GRCh37 Chromosome 11, 68455522: 68455522
26 GAL NM_015973.4(GAL): c.177C> G (p.Gly59=) single nucleotide variant Likely benign rs533111349 GRCh38 Chromosome 11, 68688054: 68688054
27 GAL NM_015973.4(GAL): c.199C> T (p.Arg67Trp) single nucleotide variant Uncertain significance rs200075890 GRCh37 Chromosome 11, 68455544: 68455544
28 GAL NM_015973.4(GAL): c.199C> T (p.Arg67Trp) single nucleotide variant Uncertain significance rs200075890 GRCh38 Chromosome 11, 68688076: 68688076
29 GAL NM_015973.4(GAL): c.43G> A (p.Ala15Thr) single nucleotide variant Uncertain significance rs753843211 GRCh38 Chromosome 11, 68684966: 68684966
30 GAL NM_015973.4(GAL): c.43G> A (p.Ala15Thr) single nucleotide variant Uncertain significance rs753843211 GRCh37 Chromosome 11, 68452434: 68452434
31 GAL NM_015973.4(GAL): c.137-2A> G single nucleotide variant Uncertain significance rs762777313 GRCh38 Chromosome 11, 68688012: 68688012
32 GAL NM_015973.4(GAL): c.137-2A> G single nucleotide variant Uncertain significance rs762777313 GRCh37 Chromosome 11, 68455480: 68455480
33 GAL NM_015973.4(GAL): c.178C> T (p.Leu60Phe) single nucleotide variant Uncertain significance rs527905700 GRCh37 Chromosome 11, 68455523: 68455523
34 GAL NM_015973.4(GAL): c.178C> T (p.Leu60Phe) single nucleotide variant Uncertain significance rs527905700 GRCh38 Chromosome 11, 68688055: 68688055

Expression for Epilepsy, Familial Temporal Lobe, 8

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 8.

Pathways for Epilepsy, Familial Temporal Lobe, 8

GO Terms for Epilepsy, Familial Temporal Lobe, 8

Sources for Epilepsy, Familial Temporal Lobe, 8

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