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EIEE2
MCID: EPL025
MIFTS: 33

Epileptic Encephalopathy, Early Infantile, 2 (EIEE2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 2:

Name: Epileptic Encephalopathy, Early Infantile, 2 57 75 13 73
Eiee2 57 75
Issx2 57 75
Infantile Spasm Syndrome, X-Linked 2; Issx2 57
Rett Syndrome Variant with Infantile Spasms 75
Rett Syndrome Early-Onset Seizure Variant 75
Atypical Rett Syndrome Hanefeld Variant 75
Cdkl5-Related Epileptic Encephalopathy 59
Infantile Spasm Syndrome, X-Linked 2 57
Atypical Rett Syndrome Cdkl5-Related 75
Infantile Spasm Syndrome X-Linked 2 75
Cdkl5 Deficiency Disorder 59

Characteristics:

OMIM:

57
Miscellaneous:
onset in infancy
males are more severely affected
seizures are usually refractory
females are most often affected, but rare male cases have been reported
dysmorphic facial features are subtle
some phenotypic overlap with rett syndrome

Inheritance:
x-linked dominant


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Liver diseases Eye diseases Mental diseases Muscle diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare neurological diseases


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Summaries for Epileptic Encephalopathy, Early Infantile, 2

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OMIM : 57 Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (312750), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300672)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 2, also known as eiee2, is related to cdkl5 deficiency disorder and rett syndrome, and has symptoms including constipation, myoclonus and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (Cyclin Dependent Kinase Like 5). The drugs Ethanol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related phenotypes are seizures and muscular hypotonia

UniProtKB/Swiss-Prot : 75 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.

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Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

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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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cdkl5 deficiency disorder 12.7
2 rett syndrome 10.2
3 infantile epileptic encephalopathy 10.1
4 epilepsy 10.1

Sources

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 2

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Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Head And Neck Nose:
anteverted nares

Neurologic Central Nervous System:
myoclonus
generalized seizures
infantile spasms
hypsarrhythmia
poor eye contact
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
breath-holding episodes
stereotyped behaviors
hand-wringing

Head And Neck Mouth:
full lips

Head And Neck Head:
microcephaly, progressive

Skeletal Spine:
scoliosis

Head And Neck Face:
prominent forehead
broad forehead

Respiratory:
hyperventilation
breath-holding episodes

Head And Neck Eyes:
well-defined eyebrows
deep-set eyes
large-appearing eyes

Skeletal Hands:
small hands
tapering fingers

Skeletal Feet:
small feet


Clinical features from OMIM:

300672

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

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 constipation 32 HP:0002019
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 myoclonus 32 HP:0001336
16 inability to walk 32 HP:0002540
17 broad forehead 32 HP:0000337
18 deeply set eye 32 HP:0000490
19 small hand 32 HP:0200055
20 intellectual disability, profound 32 HP:0002187
21 infantile spasms 32 HP:0012469
22 tapered finger 32 HP:0001182
23 generalized hypotonia 32 HP:0001290
24 hypsarrhythmia 32 HP:0002521
25 epileptic encephalopathy 32 HP:0200134
26 eeg with generalized slow activity 32 very rare (1%) HP:0010845
27 progressive microcephaly 32 HP:0000253
28 hyperventilation 32 HP:0002883
29 poor eye contact 32 HP:0000817
30 multifocal seizures 32 HP:0031165
31 cerebral visual impairment 32 HP:0100704

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


constipation, myoclonus, myoclonic seizures, difficulty sleeping
Sources

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3,Phase 2 64-17-5 702
2 Strawberry Approved Phase 3,Phase 2
3
Stiripentol Approved Phase 3 49763-96-4
4 tannic acid Approved Phase 3,Phase 2
5
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
6
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
7 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
8 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
9 Anticonvulsants Phase 3,Phase 2
10 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1,Phase 2
11 Serotonin Agents Phase 3,Phase 1,Phase 2
12 Neurotransmitter Agents Phase 3,Phase 1,Phase 2
13
Serotonin Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 50-67-9 5202
14
Verapamil Approved Phase 2 52-53-9 2520
15 Calcium, Dietary Phase 2
16 Vasodilator Agents Phase 2
17 Anti-Arrhythmia Agents Phase 2
18 calcium channel blockers Phase 2
19
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
20
Racepinephrine Approved 329-65-7 838
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22 Epinephryl borate

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
2 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
3 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
4 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
5 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
6 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
7 A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
8 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
9 GWPCARE5 - An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut Syndromes Enrolling by invitation NCT02224573 Phase 3 GWP42003-P
10 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
11 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
12 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
13 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
14 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
15 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
16 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
17 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
18 A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBD Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
19 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
20 Cannabinoid Therapy for Pediatric Epilepsy Active, not recruiting NCT02983695 Phase 1 TIL-TC150
21 Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy Active, not recruiting NCT02286986 Phase 1 Cannabidiol
22 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Unknown status NCT02815540 Not Applicable Cannabadiol
23 Cardiac Arrhythmias in Dravet Syndrome Completed NCT02415686
24 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
25 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
26 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453
27 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
28 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722 Stiripentol
29 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
30 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies Available NCT02239276 Stiripentol
31 ZX008 Expanded Access Protocol Available NCT03780127 Fenfluramine Hydrochloride
32 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
33 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol
34 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
35 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680 Not Applicable

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

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Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

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Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

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

41
Eye, Liver
Sources

Publications for Epileptic Encephalopathy, Early Infantile, 2

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Articles related to Epileptic Encephalopathy, Early Infantile, 2:

# Title Authors Year
1
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. ( 15689447 )
2005
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Variations for Epileptic Encephalopathy, Early Infantile, 2

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

75 (show all 18)
# 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 rs267608501
16 CDKL5 p.Leu182Pro VAR_078626
17 CDKL5 p.Gly207Glu VAR_078627
18 CDKL5 p.Arg178Trp VAR_078712 rs267608493

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

6 (show top 50) (show all 424)
# 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.455G> T (p.Cys152Phe) single nucleotide variant Pathogenic rs122460157 GRCh38 Chromosome X, 18581942: 18581942
5 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh37 Chromosome X, 18602444: 18602444
6 CDKL5 NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser) single nucleotide variant Pathogenic rs61749700 GRCh38 Chromosome X, 18584324: 18584324
7 CDKL5 CDKL5, 4-BP DEL, 166GAAA deletion Pathogenic
8 CDKL5 CDKL5, 2-BP DEL, 2636CT deletion Pathogenic
9 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh37 Chromosome X, 18646494: 18646494
10 CDKL5 NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs122460158 GRCh38 Chromosome X, 18628374: 18628374
11 CDKL5 CDKL5, IVS6AS, G-T, -1 single nucleotide variant Pathogenic
12 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh37 Chromosome X, 18582616: 18582616
13 CDKL5 NM_003159.2(CDKL5): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs122460159 GRCh38 Chromosome X, 18564496: 18564496
14 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 GRCh37 Chromosome X, 18593543: 18593543
15 CDKL5 NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs62641235 GRCh38 Chromosome X, 18575423: 18575423
16 CDKL5 NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile) single nucleotide variant Pathogenic rs267606713 GRCh37 Chromosome X, 18616619: 18616619
17 CDKL5 NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile) single nucleotide variant Pathogenic rs267606713 GRCh38 Chromosome X, 18598499: 18598499
18 CDKL5 NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs267606714 GRCh37 Chromosome X, 18616628: 18616628
19 CDKL5 NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs267606714 GRCh38 Chromosome X, 18598508: 18598508
20 CDKL5 CDKL5, 2-BP INS, 903GA insertion Pathogenic
21 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
22 CDKL5 NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro) single nucleotide variant Pathogenic rs267606715 GRCh38 Chromosome X, 18584332: 18584332
23 CDKL5 NM_003159.2(CDKL5): c.1797C> G (p.Thr599=) single nucleotide variant Benign rs141478957 GRCh37 Chromosome X, 18622841: 18622841
24 CDKL5 NM_003159.2(CDKL5): c.1797C> G (p.Thr599=) single nucleotide variant Benign rs141478957 GRCh38 Chromosome X, 18604721: 18604721
25 CDKL5 NM_003159.2(CDKL5): c.180G> A (p.Glu60=) single nucleotide variant Benign rs148697943 GRCh37 Chromosome X, 18593508: 18593508
26 CDKL5 NM_003159.2(CDKL5): c.180G> A (p.Glu60=) single nucleotide variant Benign rs148697943 GRCh38 Chromosome X, 18575388: 18575388
27 CDKL5 NM_003159.2(CDKL5): c.2200A> G (p.Thr734Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55803460 GRCh37 Chromosome X, 18631319: 18631319
28 CDKL5 NM_003159.2(CDKL5): c.2200A> G (p.Thr734Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55803460 GRCh38 Chromosome X, 18613199: 18613199
29 CDKL5 NM_003159.2(CDKL5): c.2653G> A (p.Gly885Arg) single nucleotide variant Uncertain significance rs398123694 GRCh37 Chromosome X, 18646647: 18646647
30 CDKL5 NM_003159.2(CDKL5): c.2653G> A (p.Gly885Arg) single nucleotide variant Uncertain significance rs398123694 GRCh38 Chromosome X, 18628527: 18628527
31 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh37 Chromosome X, 18671566: 18671566
32 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh38 Chromosome X, 18653446: 18653446
33 CDKL5 NM_003159.2(CDKL5): c.3003C> T (p.His1001=) single nucleotide variant Benign rs36022183 GRCh37 Chromosome X, 18671574: 18671574
34 CDKL5 NM_003159.2(CDKL5): c.3003C> T (p.His1001=) single nucleotide variant Benign rs36022183 GRCh38 Chromosome X, 18653454: 18653454
35 CDKL5 NM_003159.2(CDKL5): c.3084G> A (p.Thr1028=) single nucleotide variant Benign rs139155110 GRCh37 Chromosome X, 18671655: 18671655
36 CDKL5 NM_003159.2(CDKL5): c.3084G> A (p.Thr1028=) single nucleotide variant Benign rs139155110 GRCh38 Chromosome X, 18653535: 18653535
37 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh37 Chromosome X, 18602452: 18602452
38 CDKL5 NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606715 GRCh38 Chromosome X, 18584332: 18584332
39 CDKL5 NM_003159.2(CDKL5): c.93A> G (p.Arg31=) single nucleotide variant Conflicting interpretations of pathogenicity rs140332992 GRCh37 Chromosome X, 18528968: 18528968
40 CDKL5 NM_003159.2(CDKL5): c.93A> G (p.Arg31=) single nucleotide variant Conflicting interpretations of pathogenicity rs140332992 GRCh38 Chromosome X, 18510848: 18510848
41 CDKL5 NM_003159.2(CDKL5): c.145+17A> G single nucleotide variant Benign rs199814742 GRCh37 Chromosome X, 18582659: 18582659
42 CDKL5 NM_003159.2(CDKL5): c.145+17A> G single nucleotide variant Benign rs199814742 GRCh38 Chromosome X, 18564539: 18564539
43 CDKL5 NM_003159.2(CDKL5): c.1332C> T (p.Arg444=) single nucleotide variant Benign rs150844616 GRCh37 Chromosome X, 18622376: 18622376
44 CDKL5 NM_003159.2(CDKL5): c.1332C> T (p.Arg444=) single nucleotide variant Benign rs150844616 GRCh38 Chromosome X, 18604256: 18604256
45 CDKL5 NM_003159.2(CDKL5): c.1431T> C (p.Ser477=) single nucleotide variant Benign/Likely benign rs143992148 GRCh37 Chromosome X, 18622475: 18622475
46 CDKL5 NM_003159.2(CDKL5): c.1431T> C (p.Ser477=) single nucleotide variant Benign/Likely benign rs143992148 GRCh38 Chromosome X, 18604355: 18604355
47 CDKL5 NM_003159.2(CDKL5): c.2372A> C (p.Gln791Pro) single nucleotide variant Benign rs35478150 GRCh37 Chromosome X, 18638082: 18638082
48 CDKL5 NM_003159.2(CDKL5): c.2372A> C (p.Gln791Pro) single nucleotide variant Benign rs35478150 GRCh38 Chromosome X, 18619962: 18619962
49 CDKL5 NM_003159.2(CDKL5): c.2409G> A (p.Thr803=) single nucleotide variant Benign rs145401225 GRCh37 Chromosome X, 18643280: 18643280
50 CDKL5 NM_003159.2(CDKL5): c.2409G> A (p.Thr803=) single nucleotide variant Benign rs145401225 GRCh38 Chromosome X, 18625160: 18625160
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Expression for Epileptic Encephalopathy, Early Infantile, 2

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

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GO Terms for Epileptic Encephalopathy, Early Infantile, 2

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Sources for Epileptic Encephalopathy, Early Infantile, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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