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

EIEE2 MCID: EPL025 MIFTS: 48	Epileptic Encephalopathy, Early Infantile, 2 (EIEE2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Liver diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0080467

OMIM ⁵⁸ 300672

MeSH ⁴⁵ D013036

Orphanet ⁶⁰ ORPHA505652

MedGen ⁴³ C1839333

SNOMED-CT via HPO ⁷⁰ 111266001 127324008 128613002 more

UMLS ⁷⁴ C1839333

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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 seizure disorder and west 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). The drugs Ethanol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and liver, 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.

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Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

Diseases in the Early Infantile Epileptic Encephalopathy family:

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	seizure disorder	29.8	CDKL5 MECP2
2	west syndrome	29.6	CDKL5 MECP2
3	rett syndrome	29.5	CDKL5 MECP2
4	cdkl5 deficiency disorder	11.4
5	epilepsy	10.2
6	gait apraxia	9.8	CDKL5 MECP2
7	bruxism	9.8	CDKL5 MECP2
8	epileptic encephalopathy, early infantile, 9	9.8	CDKL5 MECP2
9	encephalopathy	9.8	CDKL5 MECP2
10	brain cancer	9.8	NOTCH1 USP9X
11	specific developmental disorder	9.8	CDKL5 MECP2
12	pervasive developmental disorder	9.7	CDKL5 MECP2
13	x-linked non-specific intellectual disability	9.7	MECP2 USP9X
14	visual epilepsy	9.7	CDKL5 MECP2
15	angelman syndrome	9.7	CDKL5 MECP2

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

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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	epileptic encephalopathy ³³		HP:0200134
22	hypsarrhythmia ³³		HP:0002521
23	intellectual disability, profound ³³		HP:0002187
24	infantile spasms ³³		HP:0012469
25	tapered finger ³³		HP:0001182
26	generalized hypotonia ³³		HP:0001290
27	cerebral visual impairment ³³		HP:0100704
28	hyperventilation ³³		HP:0002883
29	progressive microcephaly ³³		HP:0000253
30	poor eye contact ³³		HP:0000817
31	multifocal seizures ³³		HP:0031165

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
hypsarrhythmia
infantile spasms
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

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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

Ethanol

Approved

Phase 3,Phase 2

64-17-5

702

Strawberry

Approved

Phase 3,Phase 2

Stiripentol

Approved

Phase 3

49763-96-4

Benzocaine

Approved, Investigational

Phase 3,Phase 2

1994-09-7, 94-09-7

2337

tannic acid

Approved

Phase 3,Phase 2

1401-55-4

Clobazam

Approved, Illicit

Phase 3

22316-47-8

2789

Anticonvulsants

Phase 3,Phase 2,Phase 1

Pharmaceutical Solutions

Phase 3,Phase 2,Phase 1

Epidiolex

Phase 3,Phase 2,Phase 1

Serotonin Uptake Inhibitors

Phase 3,Phase 1,Phase 2

Neurotransmitter Agents

Phase 3,Phase 1,Phase 2

Serotonin Agents

Phase 3,Phase 1,Phase 2

Neurotransmitter Uptake Inhibitors

Phase 3,Phase 1,Phase 2

Pregnanolone

Phase 3

128-20-1

Central Nervous System Depressants

Phase 3

Anesthetics

Phase 3

GABA Agents

Phase 3

GABA-A Receptor Agonists

Phase 3

Tranquilizing Agents

Phase 3

Anti-Anxiety Agents

Phase 3

Psychotropic Drugs

Phase 3

GABA Agonists

Phase 3

Serotonin

Investigational, Nutraceutical

Phase 3,Phase 1,Phase 2

50-67-9

5202

Verapamil

Approved

Phase 2

52-53-9

2520

Calcium

Approved, Nutraceutical

Phase 2

7440-70-2

271

Anti-Arrhythmia Agents

Phase 2

Vasodilator Agents

Phase 2

calcium channel blockers

Phase 2

Calcium, Dietary

Phase 2

Hormones

Phase 2

Dronabinol

Approved, Illicit

Phase 1

1972-08-3

16078

Racepinephrine

Approved

329-65-7

838

Epinephrine

Approved, Vet_approved

51-43-4

5816

Epinephryl borate

Interventional clinical trials:

(show all 41)

#	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	A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome	Enrolling by invitation	NCT03936777	Phase 3	ZX008 (Fenfluramine Hydrochloride)
11	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
12	Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome	Terminated	NCT02187809	Phase 3	Clobazam
13	Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome	Withdrawn	NCT02174094	Phase 3	Clobazam;Placebo
14	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
15	Verapamil as Therapy for Children and Young Adults With Dravet Syndrome	Completed	NCT01607073	Phase 2	Verapamil
16	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
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 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
19	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
20	Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome	Active, not recruiting	NCT02758626	Phase 2	ataluren;Placebo
21	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
22	Fenfluramine in CDD	Not yet recruiting	NCT03861871	Phase 2	Fenfluramine Hydrochloride
23	The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy	Terminated	NCT02815540	Phase 1, Phase 2	Cannabidiol
24	Cannabidiol in Children With Refractory Epileptic Encephalopathy	Recruiting	NCT03024827	Phase 1	CanniMed® 1:20
25	Cannabinoid Therapy for Pediatric Epilepsy	Active, not recruiting	NCT02983695	Phase 1	TIL-TC150
26	Cannabidiol (CBD) to 27 Patients (Aged 2 Years - 19 Years) With Drug Resistant Epilepsy	Active, not recruiting	NCT02286986	Phase 1	Cannabidiol
27	Cardiac Arrhythmias in Dravet Syndrome	Completed	NCT02415686
28	Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population	Completed	NCT02229032
29	Treatment of Gait Disorders in Children With Dravet Syndrome	Recruiting	NCT03857451
30	Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome	Recruiting	NCT02896608
31	Natural History of Rett Syndrome & Related Disorders	Recruiting	NCT02738281
32	Risk Factors for Sudden Unexplained Death in Epilepsy	Recruiting	NCT01662453
33	Genetics of Severe Early Onset Epilepsies	Recruiting	NCT01858285
34	Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome	Available	NCT01983722		Stiripentol
35	Compassionate Use of Stiripentol in Dravet Syndrome	Available	NCT01835314		Stiripentol
36	ZX008 Expanded Access Protocol	Available	NCT03780127		Fenfluramine Hydrochloride
37	Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children	Not yet recruiting	NCT03649919
38	Stiripentol in Dravet Syndrome	No longer available	NCT01533506		stiripentol
39	Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies	No longer available	NCT02239276		Stiripentol
40	The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy	Withdrawn	NCT02910297
41	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

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

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

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Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

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

⁴²

Eye, Brain, Liver

Sources

Publications for Epileptic Encephalopathy, Early Infantile, 2

Articles related to Epileptic Encephalopathy, Early Infantile, 2:

#	Title	Authors	Year
1	A CDKL5 mutated child with precocious puberty. ( 19396824 )	Saletti V...Riva D	2009
2	Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. ( 19793311 )	Nemos C...Philippe C	2009
3	Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. ( 19241098 )	Russo S...Larizza L	2009
4	CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. ( 18809835 )	Elia M...Fichera M	2008
5	Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. ( 17993579 )	Rosas-Vargas H...Bienvenu T	2008
6	Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. ( 16813600 )	Nectoux J...Bienvenu T	2006
7	CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. ( 16611748 )	Archer HL...Osborne J	2006
8	CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. ( 15689447 )	Scala E...Renieri A	2005
9	Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. ( 15492925 )	Weaving LS...G?cz J	2004
10	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. ( 15499549 )	Tao J...Kalscheuer VM	2004

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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	1686.65	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	15492925 15499549 15689447 (more) 16813600 16611748 17993579 19793311 18809835 19241098 19396824
2	USP9X	Ubiquitin Specific Peptidase 9 X-Linked	Protein Coding	16.01	DISEASES inferred ¹⁵
3	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	14.71	DISEASES inferred ¹⁵
4	NOTCH1	Notch Receptor 1	Protein Coding	13.82	DISEASES inferred ¹⁵

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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 422)

#	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/Likely benign	rs36022183	GRCh37	Chromosome X, 18671574: 18671574
34	CDKL5	NM_003159.2(CDKL5): c.3003C> T (p.His1001=)	single nucleotide variant	Benign/Likely benign	rs36022183	GRCh38	Chromosome X, 18653454: 18653454
35	CDKL5	NM_003159.2(CDKL5): c.3084G> A (p.Thr1028=)	single nucleotide variant	Benign/Likely benign	rs139155110	GRCh37	Chromosome X, 18671655: 18671655
36	CDKL5	NM_003159.2(CDKL5): c.3084G> A (p.Thr1028=)	single nucleotide variant	Benign/Likely 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/Likely benign	rs150844616	GRCh37	Chromosome X, 18622376: 18622376
44	CDKL5	NM_003159.2(CDKL5): c.1332C> T (p.Arg444=)	single nucleotide variant	Benign/Likely 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

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

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

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Epileptic Encephalopathy, Early Infantile, 2 (EIEE2)

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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

Characteristics:

OMIM:

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Classifications:

External Ids:

Summaries for Epileptic Encephalopathy, Early Infantile, 2

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

Diseases in the Early Infantile Epileptic Encephalopathy family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

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

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

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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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

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Genes for Epileptic Encephalopathy, Early Infantile, 2

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

Variations for Epileptic Encephalopathy, Early Infantile, 2

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Expression 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:

Sources for Epileptic Encephalopathy, Early Infantile, 2