MCID: EPL029
MIFTS: 40

Epileptic Encephalopathy, Early Infantile, 9

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 9

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 9:

Name: Epileptic Encephalopathy, Early Infantile, 9 57 75 13
Early Infantile Epileptic Encephalopathy 9 12 29 6 15
Efmr 57 12 59 75
Eiee9 57 12 75
Epilepsy, Female-Restricted, with Mental Retardation 57 73
Juberg-Hellman Syndrome 57 59
Epilepsy, Female-Restricted, with Mental Retardation; Efmr 57
Early Infantile Female-Limited Epilecptic Encephalopathy 12
Female Restricted Epilepsy with Intellectual Disability 59
Female Restricted Epilepsy with Mental Retardation 12
Epilepsy Female-Restricted with Mental Retardation 75
Encephalopathy, Epileptic, Early Infantile, Type 9 40
Convulsive Disorder and Mental Retardation 75
Juberg Hellman Syndrome 12

Characteristics:

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
intellectual disability is variable
seizure onset at a mean of 14 months (range 6 to 36 months)
some patients have cessation of seizures at a mean of 12 years
carrier males are unaffected except for psychiatric/behavioral abnormalities


HPO:

32
epileptic encephalopathy, early infantile, 9:
Onset and clinical course infantile onset
Inheritance x-linked inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 9

OMIM : 57 Epileptic encephalopathy-9 is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300088)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 9, also known as early infantile epileptic encephalopathy 9, is related to pcdh19-related female-limited epilepsy and febrile infection-related epilepsy syndrome, and has symptoms including convulsive seizures, absence seizures and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 9 is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are Interaction between L1 and Ankyrins and Naphthalene metabolism. Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An infantile epileptic encephalopathy that has material basis in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 9: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 9

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 59
Epileptic Encephalopathy, Early Infantile, 60 Epileptic Encephalopathy, Early Infantile, 61
Epileptic Encephalopathy, Early Infantile, 62 Epileptic Encephalopathy, Early Infantile, 63
Epileptic Encephalopathy, Early Infantile, 64 Epileptic Encephalopathy, Early Infantile, 65
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Diseases related to Epileptic Encephalopathy, Early Infantile, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 pcdh19-related female-limited epilepsy 11.3
2 febrile infection-related epilepsy syndrome 10.6 PCDH19 SCN1A
3 hyperphosphatasia-intellectual disability syndrome 10.5 PIGO PIGV
4 seizures, benign familial infantile, 3 10.3 KCNQ2 SCN1A
5 epilepsy, nocturnal frontal lobe, 1 10.2 KCNQ2 SCN1A
6 infantile epileptic encephalopathy 10.1 CDKL5 PCDH19 SCN1A
7 neonatal period electroclinical syndrome 10.1 CDKL5 KCNQ2 SCN1A
8 gait apraxia 10.1 CDKL5 MECP2
9 epileptic encephalopathy, early infantile, 15 9.9 CDKL5 KCNQ2 PCDH19 SCN1A
10 bruxism 9.8 CDKL5 MECP2
11 x-linked non-specific intellectual disability 9.7 MECP2 TSPAN7
12 infancy electroclinical syndrome 9.7 CDKL5 KCNQ2 PCDH10 PCDH19 SCN1A
13 epileptic encephalopathy, early infantile, 6 9.7 CDKL5 KCNQ2 PCDH10 PCDH19 SCN1A
14 encephalopathy 9.6 CDKL5 MECP2 PCDH19 SCN1A
15 seizure disorder 9.6 CDKL5 KCNQ2 MECP2 SCN1A
16 west syndrome 9.6 CDKL5 KCNQ2 MECP2 SCN1A
17 epilepsy 9.5 CDKL5 KCNQ2 SCN1A SRPX2
18 epilepsy, idiopathic generalized 9.4 CDKL5 KCNQ2 PCDH10 PCDH19 SCN1A TSPAN6
19 trehalase deficiency 9.0 CDKL5 KCNQ2 MECP2 PCDH19 PIGV SCN1A

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 9:



Diseases related to Epileptic Encephalopathy, Early Infantile, 9

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 9

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
psychosis
autistic features
aggression
obsessive features
carrier males show rigid personality
more
Metabolic Features:
seizures often associated with fever (63%)

Neurologic Central Nervous System:
status epilepticus
seizures, myoclonic
delayed development, variable severity, from birth in some patients
developmental regression in about 50% of patients
normal development in some patients
more

Clinical features from OMIM:

300088

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 9:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 frequent (33%) HP:0001249
2 global developmental delay 32 frequent (33%) HP:0001263
3 generalized myoclonic seizures 32 HP:0002123
4 generalized tonic-clonic seizures 32 HP:0002069
5 psychosis 32 HP:0000709
6 absence seizures 32 HP:0002121
7 aggressive behavior 32 HP:0000718
8 focal seizures 32 HP:0007359
9 status epilepticus 32 HP:0002133
10 atonic seizures 32 HP:0010819

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 9:


convulsive seizures, absence seizures, myoclonic seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 9

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 9

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 9

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 9:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 9 29 PCDH19

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 9

Publications for Epileptic Encephalopathy, Early Infantile, 9

Articles related to Epileptic Encephalopathy, Early Infantile, 9:

# Title Authors Year
1
A new familial form of convulsive disorder and mental retardation limited to females. ( 5116697 )
1971

Variations for Epileptic Encephalopathy, Early Infantile, 9

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 9:

75 (show all 35)
# Symbol AA change Variation ID SNP ID
1 PCDH19 p.Val441Glu VAR_046484 rs132630323
2 PCDH19 p.Asn557Lys VAR_046485 rs267606933
3 PCDH19 p.Asp121Asn VAR_064481
4 PCDH19 p.Glu199Gln VAR_064482
5 PCDH19 p.His203Pro VAR_064483
6 PCDH19 p.Phe206Cys VAR_064484 rs746274631
7 PCDH19 p.Ser276Pro VAR_064485
8 PCDH19 p.Asn340Ser VAR_064486 rs796052839
9 PCDH19 p.Asp377His VAR_064487
10 PCDH19 p.Thr404Ile VAR_064488
11 PCDH19 p.Glu414Gln VAR_064489
12 PCDH19 p.Leu543Pro VAR_064490
13 PCDH19 p.Leu81Arg VAR_064840
14 PCDH19 p.Thr146Arg VAR_064842 rs796052799
15 PCDH19 p.Phe206Tyr VAR_064843
16 PCDH19 p.Glu249Asp VAR_064844
17 PCDH19 p.Asp341Glu VAR_064845
18 PCDH19 p.Pro561Arg VAR_064846 rs796052819
19 PCDH19 p.Pro567Leu VAR_064847
20 PCDH19 p.Asp618Asn VAR_064848
21 PCDH19 p.Leu25Pro VAR_067472
22 PCDH19 p.Val72Gly VAR_067473
23 PCDH19 p.Ala153Thr VAR_067474
24 PCDH19 p.Leu190Arg VAR_067475
25 PCDH19 p.Val191Leu VAR_067476 rs753757730
26 PCDH19 p.Asn232Ser VAR_067477 rs587784299
27 PCDH19 p.Asn234Ser VAR_067478
28 PCDH19 p.Pro236Ser VAR_067479
29 PCDH19 p.Ala262Asp VAR_067480
30 PCDH19 p.Pro344Arg VAR_067481
31 PCDH19 p.Asp377Glu VAR_067482
32 PCDH19 p.Leu433Pro VAR_067483
33 PCDH19 p.Gly513Arg VAR_067484
34 PCDH19 p.Val642Met VAR_067485
35 PCDH19 p.Pro236Leu VAR_078724

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 9:

6
(show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH19 PCDH19, 1-BP INS, 1091C insertion Pathogenic
2 PCDH19 NM_001184880.1(PCDH19): c.1322T> A (p.Val441Glu) single nucleotide variant Pathogenic rs132630323 GRCh37 Chromosome X, 99662274: 99662274
3 PCDH19 NM_001184880.1(PCDH19): c.1322T> A (p.Val441Glu) single nucleotide variant Pathogenic rs132630323 GRCh38 Chromosome X, 100407276: 100407276
4 PCDH19 NM_001184880.1(PCDH19): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs132630324 GRCh37 Chromosome X, 99663343: 99663343
5 PCDH19 NM_001184880.1(PCDH19): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs132630324 GRCh38 Chromosome X, 100408345: 100408345
6 PCDH19 NM_001184880.1(PCDH19): c.2012C> G (p.Ser671Ter) single nucleotide variant Pathogenic rs132630325 GRCh37 Chromosome X, 99661584: 99661584
7 PCDH19 NM_001184880.1(PCDH19): c.2012C> G (p.Ser671Ter) single nucleotide variant Pathogenic rs132630325 GRCh38 Chromosome X, 100406586: 100406586
8 PCDH19 PCDH19, 1-BP INS, 2030T insertion Pathogenic
9 PCDH19 NM_001184880.1(PCDH19): c.142G> T (p.Glu48Ter) single nucleotide variant Pathogenic rs132630326 GRCh37 Chromosome X, 99663454: 99663454
10 PCDH19 NM_001184880.1(PCDH19): c.142G> T (p.Glu48Ter) single nucleotide variant Pathogenic rs132630326 GRCh38 Chromosome X, 100408456: 100408456
11 PCDH19 PCDH19, 5-BP DUP, NT1036 duplication Pathogenic
12 PCDH19 NM_001184880.1(PCDH19): c.1671C> G (p.Asn557Lys) single nucleotide variant Pathogenic rs267606933 GRCh37 Chromosome X, 99661925: 99661925
13 PCDH19 NM_001184880.1(PCDH19): c.1671C> G (p.Asn557Lys) single nucleotide variant Pathogenic rs267606933 GRCh38 Chromosome X, 100406927: 100406927
14 PCDH19 NM_001105243.1(PCDH19): c.2834C> A (p.Ala945Glu) single nucleotide variant Uncertain significance rs371109150 GRCh37 Chromosome X, 99551747: 99551747
15 PCDH19 NM_001105243.1(PCDH19): c.2834C> A (p.Ala945Glu) single nucleotide variant Uncertain significance rs371109150 GRCh38 Chromosome X, 100296749: 100296749
16 PCDH19 NM_001105243.1(PCDH19): c.2601A> G (p.Gln867=) single nucleotide variant Uncertain significance rs61742914 GRCh37 Chromosome X, 99597007: 99597007
17 PCDH19 NM_001105243.1(PCDH19): c.2601A> G (p.Gln867=) single nucleotide variant Uncertain significance rs61742914 GRCh38 Chromosome X, 100342009: 100342009
18 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh37 Chromosome X, 99657779: 99657779
19 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh38 Chromosome X, 100402781: 100402781
20 PCDH19 NM_001105243.1(PCDH19): c.1969C> T (p.Leu657Phe) single nucleotide variant Uncertain significance rs587784296 GRCh37 Chromosome X, 99661627: 99661627
21 PCDH19 NM_001105243.1(PCDH19): c.1969C> T (p.Leu657Phe) single nucleotide variant Uncertain significance rs587784296 GRCh38 Chromosome X, 100406629: 100406629
22 PCDH19 NM_001105243.1(PCDH19): c.1548C> T (p.Tyr516=) single nucleotide variant Uncertain significance rs587784295 GRCh37 Chromosome X, 99662048: 99662048
23 PCDH19 NM_001105243.1(PCDH19): c.1548C> T (p.Tyr516=) single nucleotide variant Uncertain significance rs587784295 GRCh38 Chromosome X, 100407050: 100407050
24 PCDH19 NM_001105243.1(PCDH19): c.790G> T (p.Asp264Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs587784300 GRCh37 Chromosome X, 99662806: 99662806
25 PCDH19 NM_001105243.1(PCDH19): c.790G> T (p.Asp264Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs587784300 GRCh38 Chromosome X, 100407808: 100407808
26 PCDH19 NM_001105243.1(PCDH19): c.695A> T (p.Asn232Ile) single nucleotide variant Likely pathogenic rs587784299 GRCh37 Chromosome X, 99662901: 99662901
27 PCDH19 NM_001105243.1(PCDH19): c.695A> T (p.Asn232Ile) single nucleotide variant Likely pathogenic rs587784299 GRCh38 Chromosome X, 100407903: 100407903
28 PCDH19 NM_001105243.1(PCDH19): c.686C> T (p.Thr229Ile) single nucleotide variant Uncertain significance rs587784298 GRCh37 Chromosome X, 99662910: 99662910
29 PCDH19 NM_001105243.1(PCDH19): c.686C> T (p.Thr229Ile) single nucleotide variant Uncertain significance rs587784298 GRCh38 Chromosome X, 100407912: 100407912
30 PCDH19 NM_001105243.1(PCDH19): c.497A> T (p.Tyr166Phe) single nucleotide variant Uncertain significance rs587784297 GRCh37 Chromosome X, 99663099: 99663099
31 PCDH19 NM_001105243.1(PCDH19): c.497A> T (p.Tyr166Phe) single nucleotide variant Uncertain significance rs587784297 GRCh38 Chromosome X, 100408101: 100408101
32 PCDH19 NM_001184880.1(PCDH19): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs794726897 GRCh37 Chromosome X, 99662782: 99662782
33 PCDH19 NM_001184880.1(PCDH19): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs794726897 GRCh38 Chromosome X, 100407784: 100407784
34 PCDH19 NM_001105243.1(PCDH19): c.769G> C (p.Val257Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201713027 GRCh37 Chromosome X, 99662827: 99662827
35 PCDH19 NM_001105243.1(PCDH19): c.769G> C (p.Val257Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201713027 GRCh38 Chromosome X, 100407829: 100407829
36 PCDH19 NM_001184880.1(PCDH19): c.559T> G (p.Phe187Val) single nucleotide variant Uncertain significance rs764980282 GRCh37 Chromosome X, 99663037: 99663037
37 PCDH19 NM_001184880.1(PCDH19): c.559T> G (p.Phe187Val) single nucleotide variant Uncertain significance rs764980282 GRCh38 Chromosome X, 100408039: 100408039
38 PCDH19 NM_001184880.1(PCDH19): c.3400A> C (p.Asn1134His) single nucleotide variant Benign rs141816797 GRCh37 Chromosome X, 99551322: 99551322
39 PCDH19 NM_001184880.1(PCDH19): c.3400A> C (p.Asn1134His) single nucleotide variant Benign rs141816797 GRCh38 Chromosome X, 100296324: 100296324
40 PCDH19 NM_001184880.1(PCDH19): c.3127A> T (p.Ile1043Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs189342249 GRCh38 Chromosome X, 100296597: 100296597
41 PCDH19 NM_001184880.1(PCDH19): c.3127A> T (p.Ile1043Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs189342249 GRCh37 Chromosome X, 99551595: 99551595
42 PCDH19 NM_001184880.1(PCDH19): c.2873G> A (p.Arg958Gln) single nucleotide variant Benign/Likely benign rs748581653 GRCh38 Chromosome X, 100296851: 100296851
43 PCDH19 NM_001184880.1(PCDH19): c.2873G> A (p.Arg958Gln) single nucleotide variant Benign/Likely benign rs748581653 GRCh37 Chromosome X, 99551849: 99551849
44 PCDH19 NM_001105243.1(PCDH19): c.2258delA (p.Asn753Thrfs) deletion Pathogenic rs796052836 GRCh37 Chromosome X, 99657739: 99657739
45 PCDH19 NM_001105243.1(PCDH19): c.2258delA (p.Asn753Thrfs) deletion Pathogenic rs796052836 GRCh38 Chromosome X, 100402741: 100402741
46 PCDH19 NM_001184880.1(PCDH19): c.2024T> G (p.Val675Gly) single nucleotide variant Likely benign rs780704524 GRCh37 Chromosome X, 99661572: 99661572
47 PCDH19 NM_001184880.1(PCDH19): c.2024T> G (p.Val675Gly) single nucleotide variant Likely benign rs780704524 GRCh38 Chromosome X, 100406574: 100406574
48 PCDH19 NM_001184880.1(PCDH19): c.1968T> A (p.Ala656=) single nucleotide variant Benign/Likely benign rs776150934 GRCh38 Chromosome X, 100406630: 100406630
49 PCDH19 NM_001184880.1(PCDH19): c.1968T> A (p.Ala656=) single nucleotide variant Benign/Likely benign rs776150934 GRCh37 Chromosome X, 99661628: 99661628
50 PCDH19 NM_001184880.1(PCDH19): c.1618C> T (p.Leu540Phe) single nucleotide variant Benign/Likely benign rs374593325 GRCh38 Chromosome X, 100406980: 100406980

Expression for Epileptic Encephalopathy, Early Infantile, 9

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 9.

Pathways for Epileptic Encephalopathy, Early Infantile, 9

Pathways related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.63 KCNQ2 SCN1A
2 10.34 AKR1C1 AKR1C3
3 9.77 AKR1C1 AKR1C3

GO Terms for Epileptic Encephalopathy, Early Infantile, 9

Cellular components related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.5 ENSG00000250349 KCNQ2 PCDH10 PCDH19 TSPAN18 TSPAN6
2 node of Ranvier GO:0033268 9.16 KCNQ2 SCN1A
3 axon initial segment GO:0043194 8.62 KCNQ2 SCN1A
4 integral component of membrane GO:0016021 10.03 CDH17 ENSG00000250349 KCNQ2 PCDH10 PCDH19 PIGO

Biological processes related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.73 ENSG00000250349 TSPAN18 TSPAN6 TSPAN7
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.65 CDH17 PCDH10 PCDH19
3 GPI anchor biosynthetic process GO:0006506 9.49 PIGO PIGV
4 prostaglandin metabolic process GO:0006693 9.46 AKR1C1 AKR1C3
5 retinal metabolic process GO:0042574 9.4 AKR1C1 AKR1C3
6 neuromuscular process controlling posture GO:0050884 9.37 MECP2 SCN1A
7 progesterone metabolic process GO:0042448 9.32 AKR1C1 AKR1C3
8 daunorubicin metabolic process GO:0044597 9.26 AKR1C1 AKR1C3
9 doxorubicin metabolic process GO:0044598 9.16 AKR1C1 AKR1C3
10 C21-steroid hormone metabolic process GO:0008207 8.96 AKR1C1 AKR1C3
11 cellular response to jasmonic acid stimulus GO:0071395 8.62 AKR1C1 AKR1C3

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.51 AKR1C1 AKR1C3
2 aldo-keto reductase (NADP) activity GO:0004033 9.49 AKR1C1 AKR1C3
3 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.48 AKR1C1 AKR1C3
4 alcohol dehydrogenase (NADP+) activity GO:0008106 9.46 AKR1C1 AKR1C3
5 bile acid binding GO:0032052 9.43 AKR1C1 AKR1C3
6 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.4 AKR1C1 AKR1C3
7 steroid dehydrogenase activity GO:0016229 9.37 AKR1C1 AKR1C3
8 ketosteroid monooxygenase activity GO:0047086 9.32 AKR1C1 AKR1C3
9 androsterone dehydrogenase activity GO:0047023 9.26 AKR1C1 AKR1C3
10 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity GO:0047115 9.16 AKR1C1 AKR1C3
11 phenanthrene 9,10-monooxygenase activity GO:0018636 8.96 AKR1C1 AKR1C3
12 indanol dehydrogenase activity GO:0047718 8.62 AKR1C1 AKR1C3

Sources for Epileptic Encephalopathy, Early Infantile, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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