DEE2
MCID: DVL029
MIFTS: 47

Developmental and Epileptic Encephalopathy 2 (DEE2)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 2

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 2:

Name: Developmental and Epileptic Encephalopathy 2 57 12
Early Infantile Epileptic Encephalopathy 2 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 2 57 73 13
Eiee2 57 12 73
Issx2 57 73
Dee2 57 12
Epileptic Encephalopathy, Early Infantile, 2; Eiee2 57
Encephalopathy, Epileptic, Early Infantile, Type 2 39
Infantile Spasm Syndrome, X-Linked 2; Issx2 57
Rett Syndrome Variant with Infantile Spasms 73
Rett Syndrome Early-Onset Seizure Variant 73
Atypical Rett Syndrome Hanefeld Variant 73
Cdkl5-Related Epileptic Encephalopathy 58
Infantile Spasm Syndrome, X-Linked 2 57
Atypical Rett Syndrome Cdkl5-Related 73
X-Linked Infantile Spasm Syndrome 2 12
Infantile Spasm Syndrome X-Linked 2 73
Cdkl5 Deficiency Disorder 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 2:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Developmental and Epileptic Encephalopathy 2

OMIM® : 57 Developmental and epileptic encephalopathy-2 (DEE2) 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 impaired intellectual development 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 DEE2 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 DEE, see 308350. (300672) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 2, also known as early infantile epileptic encephalopathy 2, is related to alacrima, achalasia, and mental retardation syndrome and seizure disorder. An important gene associated with Developmental and Epileptic Encephalopathy 2 is CDKL5 (Cyclin Dependent Kinase Like 5), and among its related pathways/superpathways is Nicotine addiction. The drugs Pregnanolone and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are eeg with generalized slow activity and scoliosis

Disease Ontology : 12 A developmental and 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 : 73 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 Developmental and Epileptic Encephalopathy 2

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 29.8 USP9X TCF4 NSD1 GABRA1 CNTNAP2 CDKL5
2 seizure disorder 29.5 SCN1B NSD1 GABRA1 CDKL5
3 dravet syndrome 29.4 SCN1B GABRA1 CNTNAP2 CDKL5
4 early infantile epileptic encephalopathy 29.3 SCN1B RS1 GABRA1 CNTNAP2 CDKL5 BEND2
5 microcephaly 29.2 USP9X TCF4 NSD1 NIPBL DHCR7 CDKL5
6 west syndrome 29.0 SCN1B RS1 GABRA1 CNTNAP2 CDKL5 BEND2
7 cdkl5 deficiency disorder 11.5
8 encephalopathy 10.4
9 rett syndrome 10.3
10 epilepsy 10.3
11 juvenile retinoschisis 10.3 RS1 CDKL5
12 nicolaides-baraitser syndrome 10.3 RS1 CDKL5
13 cerebral visual impairment 10.3
14 developmental and epileptic encephalopathy 10.2
15 attention deficit-hyperactivity disorder 10.0
16 aicardi syndrome 10.0
17 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0
18 47,xyy 10.0
19 pitt-hopkins syndrome 10.0 TCF4 CNTNAP2 CDKL5
20 pitt-hopkins-like syndrome 1 9.9 CNTNAP2 CDKL5
21 early onset absence epilepsy 9.8 SCN1B GABRA1
22 epilepsy with generalized tonic-clonic seizures 9.8 SCN1B GABRA1 CDKL5
23 infancy electroclinical syndrome 9.8 SCN1B GABRA1 CDKL5
24 electroclinical syndrome 9.8 SCN1B GABRA1 CDKL5
25 angelman syndrome 9.8 TCF4 RS1 GABRA1 CDKL5
26 benign neonatal seizures 9.8 SCN1B GABRA1 CDKL5
27 childhood electroclinical syndrome 9.7 SCN1B GABRA1 CDKL5
28 benign familial neonatal epilepsy 9.7 SCN1B GABRA1 CDKL5
29 neonatal period electroclinical syndrome 9.7 SCN1B GABRA1 CDKL5
30 benign familial infantile epilepsy 9.7 SCN1B GABRA1 CDKL5
31 lennox-gastaut syndrome 9.7 SCN1B GABRA1 CDKL5
32 early myoclonic encephalopathy 9.7 SCN1B GABRA1 CDKL5
33 adolescence-adult electroclinical syndrome 9.7 SCN1B GABRA1
34 autosomal dominant nocturnal frontal lobe epilepsy 9.7 SCN1B GABRA1 CHRNA6
35 epilepsy, myoclonic juvenile 9.7 SCN1B GABRA1 CDKL5
36 generalized epilepsy with febrile seizures plus 9.6 SCN1B GABRA1 CDKL5
37 photosensitive epilepsy 9.6 SCN1B GABRA1
38 epilepsy, idiopathic generalized 9.6 SCN1B GABRA1 CDKL5
39 childhood absence epilepsy 9.6 SCN1B GABRA1 CNTNAP2 CDKL5
40 benign epilepsy with centrotemporal spikes 9.5 SCN1B GABRA1 CNTNAP2 CDKL5
41 autism 9.2 TCF4 NSD1 GABRA1 DHCR7 CNTNAP2 CDKL5
42 disease of mental health 8.9 USP9X TCF4 NSD1 NIPBL GABRA1 DHCR7

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 2:



Diseases related to Developmental and Epileptic Encephalopathy 2

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 2

Human phenotypes related to Developmental and Epileptic Encephalopathy 2:

31 58 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with generalized slow activity 31 very rare (1%) HP:0010845
2 scoliosis 58 31 Occasional (29-5%) HP:0002650
3 prominent forehead 58 31 Frequent (79-30%) HP:0011220
4 deeply set eye 58 31 Frequent (79-30%) HP:0000490
5 broad forehead 58 31 Frequent (79-30%) HP:0000337
6 infantile spasms 58 31 Frequent (79-30%) HP:0012469
7 poor eye contact 58 31 Frequent (79-30%) HP:0000817
8 gait disturbance 58 Frequent (79-30%)
9 constipation 31 HP:0002019
10 kyphosis 58 Occasional (29-5%)
11 developmental regression 31 HP:0002376
12 global developmental delay 31 HP:0001263
13 thick vermilion border 58 Frequent (79-30%)
14 anteverted nares 31 HP:0000463
15 gastroesophageal reflux 31 HP:0002020
16 stereotypy 31 HP:0000733
17 thick lower lip vermilion 31 HP:0000179
18 myoclonus 31 HP:0001336
19 everted lower lip vermilion 58 Frequent (79-30%)
20 growth delay 58 Frequent (79-30%)
21 impaired pain sensation 58 Frequent (79-30%)
22 deep philtrum 58 Frequent (79-30%)
23 high forehead 58 Occasional (29-5%)
24 hallux valgus 58 Occasional (29-5%)
25 severe global developmental delay 58 Frequent (79-30%)
26 small hand 31 HP:0200055
27 synophrys 58 Occasional (29-5%)
28 tapered finger 31 HP:0001182
29 moderate global developmental delay 58 Frequent (79-30%)
30 short foot 31 HP:0001773
31 poor head control 58 Frequent (79-30%)
32 short palm 31 HP:0004279
33 delayed gross motor development 58 Frequent (79-30%)
34 intellectual disability, profound 31 HP:0002187
35 generalized hypotonia 31 HP:0001290
36 focal-onset seizure 58 Frequent (79-30%)
37 difficulty walking 58 Frequent (79-30%)
38 inability to walk 31 HP:0002540
39 cerebral visual impairment 31 HP:0100704
40 hypsarrhythmia 31 HP:0002521
41 bruxism 58 Frequent (79-30%)
42 narrow forehead 58 Occasional (29-5%)
43 multifocal epileptiform discharges 58 Frequent (79-30%)
44 hyperventilation 31 HP:0002883
45 epileptic encephalopathy 31 HP:0200134
46 inappropriate laughter 58 Frequent (79-30%)
47 generalized tonic seizures 58 Very frequent (99-80%)
48 functional respiratory abnormality 58 Occasional (29-5%)
49 progressive microcephaly 31 HP:0000253
50 abnormal muscle tone 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

Head And Neck Nose:
anteverted nares

Neurologic Central Nervous System:
myoclonus
infantile spasms
poor eye contact
hypsarrhythmia
multifocal seizures
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

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CDKL5 CHRNA6 CNTNAP2 DHCR7 GABRA1 NIPBL

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 2

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregnanolone Investigational Phase 3 128-20-1 31402
2 Anesthetics Phase 3
3 Anticonvulsants Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone Treatment in Children and Young Adults With Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD) Followed by Long-term Open-label Treatment Active, not recruiting NCT03572933 Phase 3 ganaxolone;Placebo
2 A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Patients With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder (ARCADE Study) Completed NCT03694275 Phase 2 TAK-935
3 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
4 Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry Recruiting NCT04486768

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 2

Genetic Tests for Developmental and Epileptic Encephalopathy 2

Genetic tests related to Developmental and Epileptic Encephalopathy 2:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 2 29 CDKL5

Anatomical Context for Developmental and Epileptic Encephalopathy 2

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 2:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 2

Articles related to Developmental and Epileptic Encephalopathy 2:

(show all 40)
# Title Authors PMID Year
1
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. 61 57 6
21293276 2011
2
Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. 57 6
20602487 2010
3
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 57 6
19793311 2009
4
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 6 57
19241098 2009
5
A CDKL5 mutated child with precocious puberty. 6 57
19396824 2009
6
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 57 6
18809835 2008
7
CDKL5 disruption by t(X;18) in a girl with West syndrome. 57 6
18564362 2008
8
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 57 6
17993579 2008
9
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. 6 57
17256798 2007
10
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 6 57
15689447 2005
11
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. 57 6
15499549 2004
12
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 6 57
15492925 2004
13
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6
23647072 2013
14
CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. 6
22832775 2013
15
CDKL5 and ARX mutations in males with early-onset epilepsy. 6
23583054 2013
16
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 57
22872100 2013
17
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. 6
23064044 2013
18
The neuropathological consequences of CDKL5 mutation. 6
22812903 2012
19
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. 6
22867051 2012
20
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. 6
21802232 2012
21
Clinical phenotype of 5 females with a CDKL5 mutation. 6
21765152 2012
22
CDKL5 alterations lead to early epileptic encephalopathy in both genders. 6
21770923 2011
23
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. 6
21318334 2011
24
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 6
21309761 2011
25
Epilepsy caused by CDKL5 mutations. 6
20493745 2011
26
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 6
20397747 2010
27
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 6
19780792 2010
28
CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. 6
19807736 2010
29
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 6
19471977 2009
30
Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 6
19564592 2009
31
Key clinical features to identify girls with CDKL5 mutations. 6
18790821 2008
32
The three stages of epilepsy in patients with CDKL5 mutations. 57
18266744 2008
33
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. 57
18063413 2008
34
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 6
16611748 2006
35
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. 6
16813600 2006
36
Early onset seizures and Rett-like features associated with mutations in CDKL5. 6
16015284 2005
37
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. 57
12736870 2003
38
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. 57
12746405 2003
39
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. 61
29444904 2018
40
Sequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth. 61
25931508 2015

Variations for Developmental and Epileptic Encephalopathy 2

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 2:

6 (show top 50) (show all 406)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKL5 CDKL5, 1-BP DEL, 183T Deletion Pathogenic 11494
2 CDKL5 CDKL5, IVSAS13, G-A, -1 SNV Pathogenic 11495
3 CDKL5 CDKL5, IVS6AS, G-T, -1 SNV Pathogenic 11501
4 CDKL5 NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) SNV Pathogenic 11504 rs267606713 X:18616619-18616619 X:18598499-18598499
5 CDKL5 NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) SNV Pathogenic 18450 rs267606715 X:18602452-18602452 X:18584332-18584332
6 CDKL5 NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) SNV Pathogenic 143767 rs267608561 X:18622083-18622083 X:18603963-18603963
7 CDKL5 NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) Deletion Pathogenic 143768 rs267608565 X:18622123-18622123 X:18604003-18604003
8 CDKL5 NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) Duplication Pathogenic 143769 rs267608566 X:18622123-18622124 X:18604003-18604004
9 CDKL5 NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) SNV Pathogenic 143771 rs267608618 X:18622282-18622282 X:18604162-18604162
10 CDKL5 NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) Deletion Pathogenic 143792 rs267608648 X:18627001-18627001 X:18608881-18608881
11 CDKL5 NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) Duplication Pathogenic 143793 rs267608648 X:18627000-18627001 X:18608880-18608881
12 CDKL5 NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) Deletion Pathogenic 143795 rs267608651 X:18627602-18627602 X:18609482-18609482
13 CDKL5 NM_001323289.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) Microsatellite Pathogenic 143799 rs267608441 X:18593553-18593556 X:18575433-18575436
14 CDKL5 NM_001323289.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) Microsatellite Pathogenic 143800 rs267608654 X:18638032-18638033 X:18619912-18619913
15 CDKL5 NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) Deletion Pathogenic 143802 rs267608655 X:18638072-18638076 X:18619952-18619956
16 CDKL5 NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) Deletion Pathogenic 143805 rs267608660 X:18646497-18646497 X:18628377-18628377
17 CDKL5 NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) Deletion Pathogenic 143806 rs267608661 X:18646523-18646523 X:18628403-18628403
18 CDKL5 NM_001323289.2(CDKL5):c.39del (p.Phe13fs) Deletion Pathogenic 143819 rs267608415 X:18525253-18525253 X:18507133-18507133
19 CDKL5 NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) SNV Pathogenic 143821 rs267608477 X:18600032-18600032 X:18581912-18581912
20 CDKL5 NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) SNV Pathogenic 143824 rs61749704 X:18602458-18602458 X:18584338-18584338
21 CDKL5 NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) Deletion Pathogenic 143833 rs267608528 X:18613523-18613524 X:18595403-18595404
22 CDKL5 NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) Duplication Pathogenic 143836 rs267608537 X:18616621-18616622 X:18598501-18598502
23 CDKL5 NM_001323289.2(CDKL5):c.884del (p.Pro295fs) Deletion Pathogenic 143837 rs267608542 X:18616638-18616638 X:18598518-18598518
24 CDKL5 NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) Duplication Pathogenic 143840 rs267608552 X:18616719-18616720 X:18598599-18598600
25 CDKL5 NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) SNV Pathogenic 143772 rs267608429 X:18582622-18582622 X:18564502-18564502
26 CDKL5 NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) Deletion Pathogenic 158177 rs587783398 X:18622389-18622390 X:18604269-18604270
27 CDKL5 NM_001323289.2(CDKL5):c.146-1G>A SNV Pathogenic 158179 rs587783399 X:18593473-18593473 X:18575353-18575353
28 CDKL5 NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) Duplication Pathogenic 158181 rs587783401 X:18622839-18622840 X:18604719-18604720
29 CDKL5 NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) SNV Pathogenic 143790 rs267608647 X:18626940-18626940 X:18608820-18608820
30 CDKL5 NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) Deletion Pathogenic 143807 rs267608662 X:18646563-18646563 X:18628443-18628443
31 CDKL5 NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) SNV Pathogenic 156691 rs587783158 X:18646590-18646590 X:18628470-18628470
32 CDKL5 NM_003159.2(CDKL5):c.100-?_145+?del Deletion Pathogenic 189550
33 CDKL5 NM_001323289.2(CDKL5):c.100-2A>G SNV Pathogenic 156073 rs267608423 X:18582595-18582595 X:18564475-18564475
34 CDKL5 NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) Deletion Pathogenic 189551 rs786204964 X:18622052-18622073 X:18603932-18603953
35 RS1 NM_003159.2(CDKL5):c.146-?_*85del Deletion Pathogenic 189559 X:18593474-18671749 X:18575354-18653629
36 RS1 NM_003159.2(CDKL5):c.-162-?_*85del Deletion Pathogenic 189561 X:18525055-18671749 X:18506935-18653629
37 CDKL5 NM_003159.2(CDKL5):c.-162-?_145+?del Deletion Pathogenic 189562
38 CDKL5 NM_003159.2(CDKL5):c.-162-?_64+?del Deletion Pathogenic 189563
39 CDKL5 NM_001323289.2(CDKL5):c.-162-2A>G SNV Pathogenic 189565 rs786204973 X:18525053-18525053 X:18506933-18506933
40 CDKL5 NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) Duplication Pathogenic 189566 rs786204974 X:18622826-18622827 X:18604706-18604707
41 CDKL5 NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) Deletion Pathogenic 189569 rs786204977 X:18593535-18593541 X:18575415-18575421
42 CDKL5 NM_001323289.2(CDKL5):c.2103_2104AC[1] (p.His702fs) Microsatellite Pathogenic 189570 rs786204978 X:18627641-18627642 X:18609521-18609522
43 CDKL5 NM_001323289.2(CDKL5):c.2277-2A>G SNV Pathogenic 189571 rs786204979 X:18637985-18637985 X:18619865-18619865
44 CDKL5 NM_001323289.2(CDKL5):c.2376+1G>A SNV Pathogenic 156080 rs267608656 X:18638087-18638087 X:18619967-18619967
45 CDKL5 NM_001323289.2(CDKL5):c.2376+1G>C SNV Pathogenic 156081 rs267608656 X:18638087-18638087 X:18619967-18619967
46 RS1 NM_003159.2(CDKL5):c.2377-?_*85del Deletion Pathogenic 189572 X:18643248-18671749 X:18625128-18653629
47 CDKL5 NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) SNV Pathogenic 189573 rs17857094 X:18643365-18643365 X:18625245-18625245
48 RS1 NM_003159.2(CDKL5):c.2497-?_*85del Deletion Pathogenic 189574 X:18646491-18671749 X:18628371-18653629
49 CDKL5 NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del Deletion Pathogenic 189575
50 CDKL5 NM_003159.2(CDKL5):c.-253_2276+?del Deletion Pathogenic 189577 X:18443725-18631395 X:18425605-18613275

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 2:

73 (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

Expression for Developmental and Epileptic Encephalopathy 2

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 2.

Pathways for Developmental and Epileptic Encephalopathy 2

Pathways related to Developmental and Epileptic Encephalopathy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.23 GABRA1 CHRNA6

GO Terms for Developmental and Epileptic Encephalopathy 2

Cellular components related to Developmental and Epileptic Encephalopathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.13 LRRC4C GABRA1 CHRNA6
2 perikaryon GO:0043204 8.8 SHTN1 SCN1B CNTNAP2

Biological processes related to Developmental and Epileptic Encephalopathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of axon extension GO:0045773 8.96 SHTN1 CDKL5
2 positive regulation of neuron migration GO:2001224 8.62 SHTN1 NIPBL

Sources for Developmental and Epileptic Encephalopathy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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