Epileptic Encephalopathy, Early Infantile, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EPL025 MIFTS: 27	Epileptic Encephalopathy, Early Infantile, 2 Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases
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Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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

Infantile Spasm Syndrome, X-Linked 2 ⁵⁷

Atypical Rett Syndrome Cdkl5-Related ⁷⁵

Infantile Spasm Syndrome X-Linked 2 ⁷⁵

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 Mental diseases Liver diseases Muscle diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300672

MedGen ⁴² C1839333

MeSH ⁴⁴ D013036

SNOMED-CT via HPO ⁶⁹ 708670007 246923005 80093006 more

UMLS ⁷³ C1839333

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Summaries for Epileptic Encephalopathy, Early Infantile, 2

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 rett syndrome, 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). Affiliated tissues include eye, and related phenotypes are thick lower lip vermilion and progressive microcephaly

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

Diseases in the Infantile Epileptic Encephalopathy family:

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	rett syndrome	10.0

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Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 2

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	thick lower lip vermilion ³²		HP:0000179
2	progressive microcephaly ³²		HP:0000253
3	broad forehead ³²		HP:0000337
4	anteverted nares ³²		HP:0000463
5	deeply set eye ³²		HP:0000490
6	stereotypy ³²		HP:0000733
7	poor eye contact ³²		HP:0000817
8	tapered finger ³²		HP:0001182
9	seizures ³²		HP:0001250
10	muscular hypotonia ³²		HP:0001252
11	global developmental delay ³²		HP:0001263
12	generalized hypotonia ³²		HP:0001290
13	myoclonus ³²		HP:0001336
14	short foot ³²		HP:0001773
15	constipation ³²		HP:0002019
16	gastroesophageal reflux ³²		HP:0002020
17	generalized myoclonic seizures ³²		HP:0002123
18	intellectual disability, profound ³²		HP:0002187
19	developmental regression ³²		HP:0002376
20	hypsarrhythmia ³²		HP:0002521
21	inability to walk ³²		HP:0002540
22	scoliosis ³²		HP:0002650
23	hyperventilation ³²		HP:0002883
24	short palm ³²		HP:0004279
25	eeg with generalized slow activity ³²	very rare (1%)	HP:0010845
26	prominent forehead ³²		HP:0011220
27	infantile spasms ³²		HP:0012469
28	multifocal seizures ³²		HP:0031165
29	cortical visual impairment ³²		HP:0100704
30	small hand ³²		HP:0200055
31	epileptic encephalopathy ³²		HP:0200134

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

constipation, myoclonus, difficulty sleeping, myoclonic seizures

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Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

Search Clinical Trials , 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

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

⁴¹

Eye

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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 )	Scala E....Renieri A.	2005

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Genes for Epileptic Encephalopathy, Early Infantile, 2

Genes related to Epileptic Encephalopathy, Early Infantile, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	1254.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15492925 15499549 15689447 (more) 16813600 16611748 17993579 19793311 19396824 18809835 19241098

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Variations for Epileptic Encephalopathy, Early Infantile, 2

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 343)

#	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	CDKL5, 2-BP INS, 903GA	insertion	Pathogenic
19	CDKL5	NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro)	single nucleotide variant	Pathogenic	rs267606715	GRCh37	Chromosome X, 18602452: 18602452
20	CDKL5	NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro)	single nucleotide variant	Pathogenic	rs267606715	GRCh38	Chromosome X, 18584332: 18584332
21	CDKL5	NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267606715	GRCh37	Chromosome X, 18602452: 18602452
22	CDKL5	NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267606715	GRCh38	Chromosome X, 18584332: 18584332
23	CDKL5	NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter)	single nucleotide variant	Pathogenic	rs267608561	GRCh37	Chromosome X, 18622083: 18622083
24	CDKL5	NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter)	single nucleotide variant	Pathogenic	rs267608561	GRCh38	Chromosome X, 18603963: 18603963
25	CDKL5	NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs)	deletion	Pathogenic	rs267608565	GRCh37	Chromosome X, 18622123: 18622123
26	CDKL5	NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs)	deletion	Pathogenic	rs267608565	GRCh38	Chromosome X, 18604003: 18604003
27	CDKL5	NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs)	duplication	Pathogenic	rs267608566	GRCh37	Chromosome X, 18622126: 18622126
28	CDKL5	NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs)	duplication	Pathogenic	rs267608566	GRCh38	Chromosome X, 18604006: 18604006
29	CDKL5	NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter)	single nucleotide variant	Pathogenic	rs267608618	GRCh37	Chromosome X, 18622282: 18622282
30	CDKL5	NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter)	single nucleotide variant	Pathogenic	rs267608618	GRCh38	Chromosome X, 18604162: 18604162
31	CDKL5	NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg)	single nucleotide variant	Pathogenic	rs267608429	GRCh37	Chromosome X, 18582622: 18582622
32	CDKL5	NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg)	single nucleotide variant	Pathogenic	rs267608429	GRCh38	Chromosome X, 18564502: 18564502
33	CDKL5	NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs)	deletion	Likely pathogenic	rs267608433	GRCh37	Chromosome X, 18593491: 18593494
34	CDKL5	NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs)	deletion	Likely pathogenic	rs267608433	GRCh38	Chromosome X, 18575371: 18575374
35	CDKL5	NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter)	single nucleotide variant	Pathogenic	rs267608643	GRCh37	Chromosome X, 18622692: 18622692
36	CDKL5	NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter)	single nucleotide variant	Pathogenic	rs267608643	GRCh38	Chromosome X, 18604572: 18604572
37	CDKL5	NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter)	single nucleotide variant	Pathogenic	rs267608395	GRCh37	Chromosome X, 18622719: 18622719
38	CDKL5	NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter)	single nucleotide variant	Pathogenic	rs267608395	GRCh38	Chromosome X, 18604599: 18604599
39	CDKL5	NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter)	single nucleotide variant	Pathogenic	rs62653623	GRCh37	Chromosome X, 18593503: 18593503
40	CDKL5	NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter)	single nucleotide variant	Pathogenic	rs62653623	GRCh38	Chromosome X, 18575383: 18575383
41	CDKL5	NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs)	deletion	Pathogenic	rs62643608	GRCh37	Chromosome X, 18593511: 18593511
42	CDKL5	NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs)	deletion	Pathogenic	rs62643608	GRCh38	Chromosome X, 18575391: 18575391
43	CDKL5	NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro)	single nucleotide variant	Likely pathogenic	rs267608435	GRCh37	Chromosome X, 18593519: 18593519
44	CDKL5	NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro)	single nucleotide variant	Likely pathogenic	rs267608435	GRCh38	Chromosome X, 18575399: 18575399
45	CDKL5	NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter)	single nucleotide variant	Pathogenic	rs267608647	GRCh37	Chromosome X, 18626940: 18626940
46	CDKL5	NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter)	single nucleotide variant	Pathogenic	rs267608647	GRCh38	Chromosome X, 18608820: 18608820
47	CDKL5	NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe)	single nucleotide variant	Pathogenic	rs267608437	GRCh37	Chromosome X, 18593527: 18593527
48	CDKL5	NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe)	single nucleotide variant	Pathogenic	rs267608437	GRCh38	Chromosome X, 18575407: 18575407
49	CDKL5	NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs)	deletion	Pathogenic	rs267608648	GRCh37	Chromosome X, 18627002: 18627002
50	CDKL5	NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs)	deletion	Pathogenic	rs267608648	GRCh38	Chromosome X, 18608882: 18608882

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Expression for Epileptic Encephalopathy, Early Infantile, 2

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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