EIEE2
MCID: EPL025
MIFTS: 45

Epileptic Encephalopathy, Early Infantile, 2 (EIEE2)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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

Name: Epileptic Encephalopathy, Early Infantile, 2 58 76 13 74
Early Infantile Epileptic Encephalopathy 2 12 30 6 15
Eiee2 58 76
Issx2 58 76
Infantile Spasm Syndrome, X-Linked 2; Issx2 58
Rett Syndrome Variant with Infantile Spasms 76
Rett Syndrome Early-Onset Seizure Variant 76
Atypical Rett Syndrome Hanefeld Variant 76
Cdkl5-Related Epileptic Encephalopathy 60
Infantile Spasm Syndrome, X-Linked 2 58
Atypical Rett Syndrome Cdkl5-Related 76
X-Linked Infantile Spasm Syndrome 2 12
Infantile Spasm Syndrome X-Linked 2 76
Cdkl5 Deficiency Disorder 60

Characteristics:

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 2:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 2

OMIM : 58 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 early infantile epileptic encephalopathy 2, is related to rett syndrome and cdkl5 deficiency disorder, and has symptoms including constipation, myoclonus and difficulty sleeping. 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 related phenotypes are eeg with generalized slow activity and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has material basis in mutation in the CDKL5 gene on chromosome Xp22.

UniProtKB/Swiss-Prot : 76 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 Early 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, 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 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 rett syndrome 29.5 CDKL5 MECP2
2 cdkl5 deficiency disorder 11.4
3 epilepsy 10.2
4 gait apraxia 9.8 CDKL5 MECP2
5 bruxism 9.8 CDKL5 MECP2
6 epileptic encephalopathy, early infantile, 9 9.8 CDKL5 MECP2
7 encephalopathy 9.8 CDKL5 MECP2
8 brain cancer 9.8 NOTCH1 USP9X
9 seizure disorder 9.8 CDKL5 MECP2
10 specific developmental disorder 9.8 CDKL5 MECP2
11 pervasive developmental disorder 9.7 CDKL5 MECP2
12 x-linked non-specific intellectual disability 9.7 MECP2 USP9X
13 visual epilepsy 9.7 CDKL5 MECP2
14 angelman syndrome 9.7 CDKL5 MECP2
15 west syndrome 9.6 CDKL5 MECP2

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 2:



Diseases related to Epileptic Encephalopathy, Early Infantile, 2

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 2

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

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 eeg with generalized slow activity 33 very rare (1%) HP:0010845
2 seizures 33 HP:0001250
3 muscular hypotonia 33 HP:0001252
4 constipation 33 HP:0002019
5 developmental regression 33 HP:0002376
6 scoliosis 33 HP:0002650
7 global developmental delay 33 HP:0001263
8 anteverted nares 33 HP:0000463
9 gastroesophageal reflux 33 HP:0002020
10 stereotypy 33 HP:0000733
11 prominent forehead 33 HP:0011220
12 generalized myoclonic seizures 33 HP:0002123
13 thick lower lip vermilion 33 HP:0000179
14 short palm 33 HP:0004279
15 short foot 33 HP:0001773
16 myoclonus 33 HP:0001336
17 inability to walk 33 HP:0002540
18 broad forehead 33 HP:0000337
19 deeply set eye 33 HP:0000490
20 small hand 33 HP:0200055
21 intellectual disability, profound 33 HP:0002187
22 infantile spasms 33 HP:0012469
23 tapered finger 33 HP:0001182
24 generalized hypotonia 33 HP:0001290
25 hypsarrhythmia 33 HP:0002521
26 epileptic encephalopathy 33 HP:0200134
27 progressive microcephaly 33 HP:0000253
28 hyperventilation 33 HP:0002883
29 poor eye contact 33 HP:0000817
30 multifocal seizures 33 HP:0031165
31 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
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

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


constipation, myoclonus, difficulty sleeping, myoclonic seizures

GenomeRNAi Phenotypes related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.83 USP9X
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.83 NOTCH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.83 USP9X
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.83 NOTCH1 USP9X
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.83 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 NOTCH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.83 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.83 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.83 USP9X
10 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.83 NOTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.83 NOTCH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.83 USP9X
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.83 NOTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.83 USP9X
15 shRNA abundance <= 50% GR00343-S 8.92 CDKL5 MECP2 NOTCH1 USP9X

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 CDKL5 MECP2 NOTCH1 USP9X
2 no phenotypic analysis MP:0003012 8.8 CDKL5 MECP2 USP9X

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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

(show all 34)
# 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 1401-55-4
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 Epidiolex Phase 3,Phase 2,Phase 1
8 Anticonvulsants Phase 3,Phase 2,Phase 1
9 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
10 Serotonin Agents Phase 3,Phase 1,Phase 2
11 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
12 Neurotransmitter Agents Phase 3,Phase 1,Phase 2
13 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1,Phase 2
14 Central Nervous System Depressants Phase 3
15 Pregnanolone Phase 3 128-20-1
16 Anesthetics Phase 3
17 Anti-Anxiety Agents Phase 3
18 GABA Agents Phase 3
19 Tranquilizing Agents Phase 3
20 GABA Agonists Phase 3
21 GABA-A Receptor Agonists Phase 3
22 Psychotropic Drugs Phase 3
23
Serotonin Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 50-67-9 5202
24
Verapamil Approved Phase 2 52-53-9 2520
25
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
26 Calcium, Dietary Phase 2
27 Vasodilator Agents Phase 2
28 calcium channel blockers Phase 2
29 Anti-Arrhythmia Agents Phase 2
30 Hormones Phase 2
31
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
32
Racepinephrine Approved 329-65-7 838
33
Epinephrine Approved, Vet_approved 51-43-4 5816
34 Epinephryl borate

Interventional clinical trials:

(show all 39)
# 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 Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder Recruiting NCT03572933 Phase 3 ganaxolone;Placebo
7 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
8 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)
9 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)
10 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
11 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
12 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
13 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
14 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
15 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
16 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
17 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
18 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY) Recruiting NCT03694275 Phase 2 TAK-935
19 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
20 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
21 Fenfluramine in CDD Not yet recruiting NCT03861871 Phase 2 Fenfluramine Hydrochloride
22 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
23 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
24 Cannabinoid Therapy for Pediatric Epilepsy Active, not recruiting NCT02983695 Phase 1 TIL-TC150
25 Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy Active, not recruiting NCT02286986 Phase 1 Cannabidiol
26 Cardiac Arrhythmias in Dravet Syndrome Completed NCT02415686
27 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
28 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
29 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
30 Risk Factors for Sudden Unexplained Death in Epilepsy Recruiting NCT01662453
31 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
32 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722 Stiripentol
33 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
34 ZX008 Expanded Access Protocol Available NCT03780127 Fenfluramine Hydrochloride
35 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
36 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol
37 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies No longer available NCT02239276 Stiripentol
38 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
39 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680 Not Applicable

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:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 2 30 CDKL5

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

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

42
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 2

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

Variations for Epileptic Encephalopathy, Early Infantile, 2

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

76 (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 414)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKL5 NM_003159.2(CDKL5): c.62A> G (p.Glu21Gly) single nucleotide variant Likely pathogenic rs587783406 GRCh37 Chromosome X, 18525278: 18525278
2 CDKL5 NM_003159.2(CDKL5): c.62A> G (p.Glu21Gly) single nucleotide variant Likely pathogenic rs587783406 GRCh38 Chromosome X, 18507158: 18507158
3 CDKL5 NM_003159.2(CDKL5): c.146-1G> A single nucleotide variant Pathogenic rs587783399 GRCh37 Chromosome X, 18593473: 18593473
4 CDKL5 NM_003159.2(CDKL5): c.146-1G> A single nucleotide variant Pathogenic rs587783399 GRCh38 Chromosome X, 18575353: 18575353
5 CDKL5 NM_003159.2(CDKL5): c.248G> T (p.Gly83Val) single nucleotide variant Uncertain significance rs587783402 GRCh37 Chromosome X, 18593576: 18593576
6 CDKL5 NM_003159.2(CDKL5): c.248G> T (p.Gly83Val) single nucleotide variant Uncertain significance rs587783402 GRCh38 Chromosome X, 18575456: 18575456
7 CDKL5 NM_003159.2(CDKL5): c.283-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587783404 GRCh37 Chromosome X, 18597955: 18597955
8 CDKL5 NM_003159.2(CDKL5): c.283-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587783404 GRCh38 Chromosome X, 18579835: 18579835
9 CDKL5 NM_003159.2(CDKL5): c.526T> C (p.Trp176Arg) single nucleotide variant Likely pathogenic rs587783084 GRCh37 Chromosome X, 18602445: 18602445
10 CDKL5 NM_003159.2(CDKL5): c.526T> C (p.Trp176Arg) single nucleotide variant Likely pathogenic rs587783084 GRCh38 Chromosome X, 18584325: 18584325
11 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 GRCh37 Chromosome X, 18606141: 18606141
12 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 GRCh38 Chromosome X, 18588021: 18588021
13 CDKL5 NM_003159.2(CDKL5): c.969G> A (p.Leu323=) single nucleotide variant Uncertain significance rs587783407 GRCh37 Chromosome X, 18616725: 18616725
14 CDKL5 NM_003159.2(CDKL5): c.969G> A (p.Leu323=) single nucleotide variant Uncertain significance rs587783407 GRCh38 Chromosome X, 18598605: 18598605
15 CDKL5 NM_003159.2(CDKL5): c.1345_1346del (p.Glu449Lysfs) deletion Pathogenic rs587783398 GRCh37 Chromosome X, 18622389: 18622390
16 CDKL5 NM_003159.2(CDKL5): c.1345_1346del (p.Glu449Lysfs) deletion Pathogenic rs587783398 GRCh38 Chromosome X, 18604269: 18604270
17 CDKL5 NM_003159.2(CDKL5): c.1678A> G (p.Thr560Ala) single nucleotide variant Uncertain significance rs587783400 GRCh37 Chromosome X, 18622722: 18622722
18 CDKL5 NM_003159.2(CDKL5): c.1678A> G (p.Thr560Ala) single nucleotide variant Uncertain significance rs587783400 GRCh38 Chromosome X, 18604602: 18604602
19 CDKL5 NM_003159.2(CDKL5): c.1797dup (p.Ser600Glnfs) duplication Pathogenic rs587783401 GRCh37 Chromosome X, 18622841: 18622841
20 CDKL5 NM_003159.2(CDKL5): c.1797dup (p.Ser600Glnfs) duplication Pathogenic rs587783401 GRCh38 Chromosome X, 18604721: 18604721
21 CDKL5 NM_003159.2(CDKL5): c.2820C> A (p.Asp940Glu) single nucleotide variant Uncertain significance rs587783403 GRCh37 Chromosome X, 18668552: 18668552
22 CDKL5 NM_003159.2(CDKL5): c.2820C> A (p.Asp940Glu) single nucleotide variant Uncertain significance rs587783403 GRCh38 Chromosome X, 18650432: 18650432
23 CDKL5 NM_003159.2(CDKL5): c.-253_-163+?del deletion Likely pathogenic GRCh37 Chromosome X, 18443725: 18443815
24 CDKL5 NM_003159.2(CDKL5): c.-253_-163+?del deletion Likely pathogenic GRCh38 Chromosome X, 18425605: 18425695
25 CDKL5 NM_003159.2(CDKL5): c.-253_99+?del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18528974
26 CDKL5 NM_003159.2(CDKL5): c.-253_99+?del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18510854
27 CDKL5 NM_003159.2(CDKL5): c.-253_825+?del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18613548
28 CDKL5 NM_003159.2(CDKL5): c.-253_825+?del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18595428
29 CDKL5 NM_003159.2(CDKL5): c.-253_977+?del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18616733
30 CDKL5 NM_003159.2(CDKL5): c.-253_977+?del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18598613
31 CDKL5 NM_003159.2(CDKL5): c.-253_2276+?del deletion Pathogenic GRCh38 Chromosome X, 18425605: 18613275
32 CDKL5 NM_003159.2(CDKL5): c.-253_2276+?del deletion Pathogenic GRCh37 Chromosome X, 18443725: 18631395
33 CDKL5 NM_003159.2(CDKL5): c.-162-?_64+?del deletion Pathogenic
34 CDKL5 NM_003159.2(CDKL5): c.-162-?_99+?del deletion Pathogenic
35 CDKL5 NM_003159.2(CDKL5): c.-162-?_145+?del deletion Pathogenic
36 CDKL5 NM_003159.2(CDKL5): c.-162-?_*85del deletion Pathogenic GRCh37 Chromosome X, 18525055: 18671749
37 CDKL5 NM_003159.2(CDKL5): c.-162-?_*85del deletion Pathogenic GRCh38 Chromosome X, 18506935: 18653629
38 CDKL5 NM_003159.2(CDKL5): c.65-?_99+?del deletion Pathogenic
39 CDKL5 NM_003159.2(CDKL5): c.100-?_145+?del deletion Pathogenic
40 CDKL5 NM_003159.2(CDKL5): c.146-?_*85del deletion Pathogenic GRCh37 Chromosome X, 18593474: 18671749
41 CDKL5 NM_003159.2(CDKL5): c.146-?_*85del deletion Pathogenic GRCh38 Chromosome X, 18575354: 18653629
42 CDKL5 NM_003159.2(CDKL5): c.745-?_825+?del deletion Pathogenic
43 CDKL5 NM_003159.2(CDKL5): c.2377-?_*85del deletion Pathogenic GRCh37 Chromosome X, 18643248: 18671749
44 CDKL5 NM_003159.2(CDKL5): c.2377-?_*85del deletion Pathogenic GRCh38 Chromosome X, 18625128: 18653629
45 CDKL5 NM_003159.2(CDKL5): c.2497-?_*85del deletion Pathogenic GRCh38 Chromosome X, 18628371: 18653629
46 CDKL5 NM_003159.2(CDKL5): c.2497-?_*85del deletion Pathogenic GRCh37 Chromosome X, 18646491: 18671749
47 CDKL5 NM_003159.2(CDKL5): c.-162-2A> G single nucleotide variant Pathogenic rs786204973 GRCh38 Chromosome X, 18506933: 18506933
48 CDKL5 NM_003159.2(CDKL5): c.-162-2A> G single nucleotide variant Pathogenic rs786204973 GRCh37 Chromosome X, 18525053: 18525053
49 CDKL5 NM_003159.2(CDKL5): c.91A> G (p.Arg31Gly) single nucleotide variant Pathogenic rs786204991 GRCh37 Chromosome X, 18528966: 18528966
50 CDKL5 NM_003159.2(CDKL5): c.91A> G (p.Arg31Gly) single nucleotide variant Pathogenic rs786204991 GRCh38 Chromosome X, 18510846: 18510846

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

Biological processes related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.37 MECP2 NOTCH1
2 brain development GO:0007420 9.32 MECP2 NOTCH1
3 regulation of gene expression GO:0010468 9.26 MECP2 NOTCH1
4 neuron differentiation GO:0030182 9.16 MECP2 NOTCH1
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.13 MECP2 NOTCH1 USP9X
6 neuron migration GO:0001764 8.62 CDKL5 USP9X

Sources for Epileptic Encephalopathy, Early Infantile, 2

3 CDC
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10 dbSNP
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17 EFO
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70 SNOMED-CT via HPO
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