EIEE2
MCID: EPL025
MIFTS: 34

Epileptic Encephalopathy, Early Infantile, 2 (EIEE2) malady

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Eye diseases, Mental diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

Aliases & Descriptions for Epileptic Encephalopathy, Early Infantile, 2:

Name: Epileptic Encephalopathy, Early Infantile, 2 54 24 66 29 13 69
Eiee2 24 66
Issx2 24 66
Rett Syndrome, Variant, with Infantile Spasms 24
Rett Syndrome Variant with Infantile Spasms 66
Rett Syndrome Early-Onset Seizure Variant 66
Atypical Rett Syndrome Hanefeld Variant 66
Infantile Spasm Syndrome, X-Linked 2 24
Atypical Rett Syndrome Cdkl5-Related 66
Infantile Spasm Syndrome X-Linked 2 66

Characteristics:

HPO:

32
epileptic encephalopathy, early infantile, 2:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300672
MedGen 40 C1839333
MeSH 42 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 2

OMIM : 54 EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life... (300672) more...

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 2, also known as eiee2, is related to epileptic encephalopathy, early infantile, 1 and rett syndrome, and has symptoms including constipation, myoclonus and muscular hypotonia. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (Cyclin Dependent Kinase Like 5). The drugs Carbamazepine and Nitrazepam have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 Epileptic encephalopathy, early infantile, 2: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 11 Epileptic Encephalopathy, Early Infantile, 24
Epileptic Encephalopathy, Early Infantile, 19 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 3
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 16
Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 36 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 44

Diseases related to Epileptic Encephalopathy, Early Infantile, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 10.8
2 rett syndrome 10.0

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 2

Symptoms by clinical synopsis from OMIM:

300672

Clinical features from OMIM:

300672

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 myoclonus 32 HP:0001336
3 muscular hypotonia 32 HP:0001252
4 developmental regression 32 HP:0002376
5 scoliosis 32 HP:0002650
6 global developmental delay 32 HP:0001263
7 anteverted nares 32 HP:0000463
8 gastroesophageal reflux 32 HP:0002020
9 stereotypy 32 HP:0000733
10 prominent forehead 32 HP:0011220
11 generalized myoclonic seizures 32 HP:0002123
12 thick lower lip vermilion 32 HP:0000179
13 short palm 32 HP:0004279
14 short foot 32 HP:0001773
15 inability to walk 32 HP:0002540
16 broad forehead 32 HP:0000337
17 deeply set eye 32 HP:0000490
18 small hand 32 HP:0200055
19 intellectual disability, profound 32 HP:0002187
20 infantile spasms 32 HP:0012469
21 tapered finger 32 HP:0001182
22 hypsarrhythmia 32 HP:0002521
23 epileptic encephalopathy 32 HP:0200134
24 poor eye contact 32 HP:0000817
25 hyperventilation 32 HP:0002883
26 progressive microcephaly 32 HP:0000253

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 2:


constipation, myoclonus, difficulty sleeping

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

Drugs for Epileptic Encephalopathy, Early Infantile, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 96)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
2
Nitrazepam Approved Phase 2 146-22-5 4506
3
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
6
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
7 Adrenocorticotropic Hormone Phase 2
8 beta-endorphin Phase 2
9 Hormone Antagonists Phase 2
10 Hormones Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
12 Melanocyte-Stimulating Hormones Phase 2
13 Neurotransmitter Agents Phase 2
14 Analgesics Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Anti-Anxiety Agents Phase 2
17 Anticonvulsants Phase 2
18 Antimanic Agents Phase 2
19 Central Nervous System Depressants Phase 2
20 Cytochrome P-450 CYP3A Inducers Phase 2
21 GABA Agents Phase 2
22 GABA Modulators Phase 2
23 Hypnotics and Sedatives Phase 2
24 Micronutrients Phase 2
25 Peripheral Nervous System Agents Phase 2
26 Psychotropic Drugs Phase 2
27 Trace Elements Phase 2
28 Tranquilizing Agents Phase 2
29 Vitamin B 6 Phase 2
30 Vitamin B Complex Phase 2
31 Vitamins Phase 2
32 Folate Nutraceutical Phase 2
33 Vitamin B9 Nutraceutical Phase 2
34
Alfentanil Approved, Illicit 71195-58-9 51263
35
Aripiprazole Approved, Investigational 129722-12-9 60795
36
Ceftazidime Approved 78439-06-2 5481173
37
Cidofovir Approved 113852-37-2 60613
38
Ciprofloxacin Approved, Investigational 85721-33-1 2764
39
Clozapine Approved 5786-21-0 2818
40
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
41
Diazepam Approved, Illicit, Vet_approved 439-14-5 3016
42
Epinephrine Approved, Vet_approved 51-43-4 5816
43
Fosphenytoin Approved 93390-81-9 56339
44
Haloperidol Approved 52-86-8 3559
45
Heparin Approved, Investigational 9005-49-6 772 46507594
46
Hydromorphone Approved, Illicit 466-99-9 5284570
47
Meropenem Approved, Investigational 119478-56-7 64778 441130
48
Methylprednisolone Approved, Vet_approved 83-43-2 6741
49
Midazolam Approved, Illicit 59467-70-8 4192
50
Molindone Approved 7416-34-4 23897

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase II Randomized Study of Early Surgery Vs Multiple Sequential Antiepileptic Drug Therapy for Infantile Spasms Refractory to Standard Treatment Completed NCT00004758 Phase 2
2 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care Recruiting NCT01431326

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 2

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 2:

id Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 2 29
2 Epileptic Encephalopathy, Early Infantile, 2 24 CDKL5

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 2:

39
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 2

Variations for Epileptic Encephalopathy, Early Infantile, 2

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

66 (show all 15)
id Symbol AA change Variation ID SNP ID
1 CDKL5 p.Cys152Phe VAR_023560 rs122460157
2 CDKL5 p.Arg175Ser VAR_023561 rs61749700
3 CDKL5 p.Pro180Leu VAR_037635 rs61749704
4 CDKL5 p.Ala40Val VAR_058022 rs122460159
5 CDKL5 p.Ile72Asn VAR_058023 rs62641235
6 CDKL5 p.Ile72Thr VAR_058024 rs62641235
7 CDKL5 p.His127Arg VAR_058025 rs267608468
8 CDKL5 p.Arg178Pro VAR_058026 rs267606715
9 CDKL5 p.Leu220Pro VAR_058027 rs267608511
10 CDKL5 p.Thr288Ile VAR_058028 rs267606713
11 CDKL5 p.Cys291Tyr VAR_058029 rs267606714
12 CDKL5 p.Asn399Thr VAR_058030 rs267608611
13 CDKL5 p.Val718Met VAR_058032 rs267608653
14 CDKL5 p.Arg178Gln VAR_071103 rs267606715
15 CDKL5 p.Ser196Leu VAR_078219

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

6 (show top 50) (show all 117)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDKL5 CDKL5, 1-BP DEL, 183T deletion Pathogenic
2 CDKL5 CDKL5, IVSAS13, G-A, -1 single nucleotide variant Pathogenic
3 CDKL5 NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh37 Chromosome X, 18600062: 18600062
4 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh37 Chromosome X, 18602444: 18602444
5 CDKL5 CDKL5, 4-BP DEL, 166GAAA deletion Pathogenic
6 CDKL5 CDKL5, 2-BP DEL, 2636CT deletion Pathogenic
7 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh37 Chromosome X, 18646494: 18646494
8 CDKL5 CDKL5, IVS6AS, G-T, -1 single nucleotide variant Pathogenic
9 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh37 Chromosome X, 18582616: 18582616
10 CDKL5 NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile) single nucleotide variant Pathogenic rs267606713 GRCh37 Chromosome X, 18616619: 18616619
11 CDKL5 CDKL5, 2-BP INS, 903GA insertion Pathogenic
12 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
13 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
14 CDKL5 NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs267608561 GRCh37 Chromosome X, 18622083: 18622083
15 CDKL5 NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs) deletion Pathogenic rs267608565 GRCh37 Chromosome X, 18622123: 18622123
16 CDKL5 NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs) duplication Pathogenic rs267608566 GRCh37 Chromosome X, 18622126: 18622126
17 CDKL5 NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter) single nucleotide variant Pathogenic rs267608618 GRCh37 Chromosome X, 18622282: 18622282
18 CDKL5 NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg) single nucleotide variant Pathogenic rs267608429 GRCh37 Chromosome X, 18582622: 18582622
19 CDKL5 NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs) deletion Pathogenic rs267608433 GRCh37 Chromosome X, 18593491: 18593494
20 CDKL5 NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic rs267608643 GRCh37 Chromosome X, 18622692: 18622692
21 CDKL5 NM_003159.2(CDKL5): c.229_232delGAAG (p.Glu77Hisfs) deletion Pathogenic rs267608441 GRCh38 Chromosome X, 18575437: 18575440
22 CDKL5 NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter) single nucleotide variant Pathogenic rs267608395 GRCh37 Chromosome X, 18622719: 18622719
23 CDKL5 NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs62653623 GRCh37 Chromosome X, 18593503: 18593503
24 CDKL5 NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs) deletion Pathogenic rs62643608 GRCh37 Chromosome X, 18593511: 18593511
25 CDKL5 NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro) single nucleotide variant Likely pathogenic rs267608435 GRCh37 Chromosome X, 18593519: 18593519
26 CDKL5 NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter) single nucleotide variant Pathogenic rs267608647 GRCh37 Chromosome X, 18626940: 18626940
27 CDKL5 NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267608437 GRCh37 Chromosome X, 18593527: 18593527
28 CDKL5 NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs) deletion Pathogenic rs267608648 GRCh37 Chromosome X, 18627002: 18627002
29 CDKL5 NM_003159.2(CDKL5): c.2016dupC (p.Ser673Leufs) duplication Pathogenic rs267608649 GRCh37 Chromosome X, 18627002: 18627002
30 CDKL5 NM_003159.2(CDKL5): c.2066delC (p.Pro689Hisfs) deletion Pathogenic rs267608651 GRCh37 Chromosome X, 18627604: 18627604
31 CDKL5 NM_003159.2(CDKL5): c.2152G> A (p.Val718Met) single nucleotide variant Pathogenic/Likely pathogenic rs267608653 GRCh37 Chromosome X, 18627690: 18627690
32 CDKL5 NM_003159.2(CDKL5): c.2325_2326delGA (p.Lys776Alafs) deletion Pathogenic rs267608654 GRCh37 Chromosome X, 18638035: 18638036
33 CDKL5 NM_003159.2(CDKL5): c.2363_2367delAGAAA (p.Lys788Ilefs) deletion Pathogenic rs267608655 GRCh37 Chromosome X, 18638073: 18638077
34 CDKL5 NM_003159.2(CDKL5): c.2413C> T (p.Gln805Ter) single nucleotide variant Pathogenic rs267608659 GRCh37 Chromosome X, 18643284: 18643284
35 CDKL5 NM_003159.2(CDKL5): c.2504delC (p.Pro835Hisfs) deletion Pathogenic rs267608660 GRCh37 Chromosome X, 18646498: 18646498
36 CDKL5 NM_003159.2(CDKL5): c.2529delA (p.Leu843Phefs) deletion Pathogenic rs267608661 GRCh37 Chromosome X, 18646523: 18646523
37 CDKL5 NM_003159.2(CDKL5): c.2572delC (p.Arg858Alafs) deletion Pathogenic rs267608662 GRCh37 Chromosome X, 18646566: 18646566
38 CDKL5 NM_003159.2(CDKL5): c.2593C> T (p.Gln865Ter) single nucleotide variant Pathogenic rs267608663 GRCh37 Chromosome X, 18646587: 18646587
39 CDKL5 NM_003159.2(CDKL5): c.2635_2636delCT (p.Leu879Glufs) deletion Pathogenic rs61753251 GRCh38 Chromosome X, 18628509: 18628510
40 CDKL5 NM_003159.2(CDKL5): c.39delT (p.Phe13Leufs) deletion Pathogenic rs267608415 GRCh37 Chromosome X, 18525255: 18525255
41 CDKL5 NM_003159.2(CDKL5): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs267608472 GRCh37 Chromosome X, 18598085: 18598085
42 CDKL5 NM_003159.2(CDKL5): c.425T> A (p.Leu142Ter) single nucleotide variant Pathogenic rs267608477 GRCh37 Chromosome X, 18600032: 18600032
43 CDKL5 NM_003159.2(CDKL5): c.513C> A (p.Tyr171Ter) single nucleotide variant Pathogenic rs267608490 GRCh37 Chromosome X, 18602432: 18602432
44 CDKL5 NM_003159.2(CDKL5): c.532C> T (p.Arg178Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267608493 GRCh37 Chromosome X, 18602451: 18602451
45 CDKL5 NM_003159.2(CDKL5): c.539C> T (p.Pro180Leu) single nucleotide variant Pathogenic rs61749704 GRCh37 Chromosome X, 18602458: 18602458
46 CDKL5 NM_003159.2(CDKL5): c.549dupA (p.Leu184Thrfs) duplication Pathogenic rs267608497 GRCh37 Chromosome X, 18602468: 18602468
47 CDKL5 NM_003159.2(CDKL5): c.578A> G (p.Asp193Gly) single nucleotide variant Pathogenic rs267608500 GRCh37 Chromosome X, 18606097: 18606097
48 CDKL5 NM_003159.2(CDKL5): c.587C> T (p.Ser196Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267608501 GRCh37 Chromosome X, 18606106: 18606106
49 CDKL5 NM_003159.2(CDKL5): c.884delC (p.Pro295Leufs) deletion Pathogenic rs267608542 GRCh37 Chromosome X, 18616640: 18616640
50 CDKL5 NM_003159.2(CDKL5): c.58G> C (p.Gly20Arg) single nucleotide variant Likely pathogenic rs267608418 GRCh37 Chromosome X, 18525274: 18525274

Expression for Epileptic Encephalopathy, Early Infantile, 2

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 2.

Pathways for Epileptic Encephalopathy, Early Infantile, 2

GO Terms for Epileptic Encephalopathy, Early Infantile, 2

Sources for Epileptic Encephalopathy, Early Infantile, 2

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