97 results
Allele/Variant Diseases: electroclinical syndrome

zh7

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-230821-6
Genes: slc1a2b (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 41
Variant Name: Not Available

Hsap\KCNT1G288S.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0399595
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available

Hsap\KCNT1R398Q.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0399596
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available

Hsap\CDK19T196A.UAS.Tag:HA

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0360423
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 87
Variant Name: Not Available

Hsap\CDK19Y32H.UAS.Tag:HA

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0360424
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 87
Variant Name: Not Available

RhoBTBHMS00411

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0248172
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 64
Variant Name: Not Available

Efhc1tm1Kzy

(Mus musculus)
Allele/Variant
Source: MGI:3774032
Genes: Efhc1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: juvenile myoclonic epilepsy
Variant Name: Not Available

Scn1atm2.1Kzy

(Mus musculus)
Allele/Variant
Source: MGI:5523787
Genes: Scn1a (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Dravet syndrome
Variant Name: Not Available

RhoBTBUAS.cSa

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0338007
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 64
Variant Name: Not Available

GlysGD12070

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0205248
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available

Arxtm1.1Jno

(Mus musculus)
Allele/Variant
Source: MGI:4353222
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

Kcna1Adms

(Rattus norvegicus)
Allele/Variant
Source: RGD:12880383
Genes: Kcna1 (Rno)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: episodic ataxia type 1, epilepsy with generalized tonic-clonic seizures
Variant Name: Not Available

Epm2atm1Kzy

(Mus musculus)
Allele/Variant
Source: MGI:2182627
Genes: Epm2a (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available

Allele/Variant
Source: MGI:6459753
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available

Cstbtm1Rm

(Mus musculus)
Allele/Variant
Source: MGI:1861915
Genes: Cstb (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Unverricht-Lundborg syndrome
Variant Name: Not Available

Scarb2tm1Psa

(Mus musculus)
Allele/Variant
Source: MGI:2654430
Genes: Scarb2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: progressive myoclonus epilepsy
Variant Name: Not Available

Hsap\KCNT1R928C.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0399597
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available

fzrD172N.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0375825
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 109
Variant Name: Not Available

Eaat2CR00503-TG4.2

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0340605
Genes: Eaat2 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 41
Variant Name: Not Available

Hsap\NSFA459T.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0358393
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 96
Variant Name: Not Available

pan5

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar02156978
Genes: goa-1 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available

tm4876

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar00296746
Genes: cdkr-3 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

Uba5KO

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0397842
Genes: Uba5 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 44
Variant Name: Not Available

Arxtm5Kki

(Mus musculus)
Allele/Variant
Source: MGI:5559563
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: deletion, insertion
Molecular Consequence: frameshift_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

fzrN318K.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0375826
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 109
Variant Name: Not Available

D12KK100444

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0230753
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: familial adult myoclonic epilepsy 4
Variant Name: Not Available

ok3364

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar00094386
Genes: uba-5 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant, stop_lost, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

Kcnt1em1Lekk

(Mus musculus)
Allele/Variant
Source: MGI:7624374
Genes: Kcnt1 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 14
Variant Name: Not Available

s3001

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-150721-10
Genes: stxbp1b (Dre)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: 5_prime_UTR_variant, start_lost
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

paraR-C

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0370724
Genes: para (Dme)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: Dravet syndrome
Variant Name: Not Available

zu1

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-210916-8
Genes: scn1lab (Dre)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: splice_region_variant, frameshift_variant
Diseases: Dravet syndrome
Variant Name: Not Available

PheRS-mKO

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0371472
Genes: PheRS-m (Dme)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: coding_sequence_variant
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available

paraKO.attP

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0371385
Genes: para (Dme)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: 5_prime_UTR_variant
Diseases: epilepsy, Dravet syndrome
Variant Name: Not Available

Kcnt1em1Pqt

(Mus musculus)
Allele/Variant
Source: MGI:7442161
Genes: Kcnt1 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 14
Variant Name: Not Available

udm103

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-190107-3
Genes: gabra1 (Dre)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: frameshift_variant
Diseases: epilepsy with generalized tonic-clonic seizures
Variant Name: Not Available

Arxtm4Kki

(Mus musculus)
Allele/Variant
Source: MGI:4359177
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: inframe_insertion
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

GαoG203R

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0385330
Genes: Gαo (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 17
Variant Name: Not Available

sa734

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar00242615
Genes: goa-1 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available

Got2em2Pcamp

(Mus musculus)
Allele/Variant
Source: MGI:7464270
Genes: Got2 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

n499

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar00089556
Genes: goa-1 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available

Hsap\NSFP563L.UAS

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0358395
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 96
Variant Name: Not Available

Hsap\TMEM63BG580C.UAS.Tag:MYC

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0392537
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available

Lgi1m1Kyo

(Rattus norvegicus)
Allele/Variant
Source: RGD:12792970
Genes: Lgi1 (Rno)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: epilepsy, epilepsy with generalized tonic-clonic seizures
Variant Name: Not Available

Gnao1em1Rneu

(Mus musculus)
Allele/Variant
Source: MGI:6295353
Genes: Gnao1 (Mmu)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 17
Variant Name: Not Available

ulv12

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar02153378
Genes: unc-18 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available

Arxtm1.1Ics

(Mus musculus)
Allele/Variant
Source: MGI:6195852
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: syndromic X-linked intellectual disability, early infantile epileptic encephalopathy
Variant Name: Not Available

Nhlrc1tm1.2Geno

(Mus musculus)
Allele/Variant
Source: MGI:5312925
Genes: Nhlrc1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available

paraDS.S1231R

(Drosophila melanogaster)
Allele/Variant
Source: FB:FBal0298796
Genes: para (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: epilepsy, Dravet syndrome
Variant Name: Not Available

Prickle1em1Yzou

(Mus musculus)
Allele/Variant
Source: MGI:6885945
Genes: Prickle1 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: progressive myoclonus epilepsy 1B, autism spectrum disorder
Variant Name: Not Available

Cacna1atg

(Mus musculus)
Allele/Variant
Source: MGI:1856209
Genes: Cacna1a (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: episodic ataxia type 2, generalized dystonia, childhood electroclinical syndrome
Variant Name: Not Available