Epileptic Encephalopathy, Early Infantile, 70 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 70

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 70:

Name: Epileptic Encephalopathy, Early Infantile, 70 ⁵⁶ ⁷³ ²⁹ ⁶

Eiee70 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in first months of life
three unrelated patients have been reported (last curated january 2019)

HPO:

³¹

epileptic encephalopathy, early infantile, 70:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618298

OMIM Phenotypic Series ⁵⁶ PS308350

MeSH ⁴³ D013036

MedGen ⁴¹ C4749023 CN258149

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Summaries for Epileptic Encephalopathy, Early Infantile, 70

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 70: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE70 is an autosomal dominant form with onset in first months of life and variable severity.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 70, is also known as eiee70. An important gene associated with Epileptic Encephalopathy, Early Infantile, 70 is PHACTR1 (Phosphatase And Actin Regulator 1). Affiliated tissues include brain, and related phenotypes are scoliosis and abnormal facial shape

More information from OMIM: 618298 PS308350

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Related Diseases for Epileptic Encephalopathy, Early Infantile, 70

Diseases in the Early Infantile Epileptic Encephalopathy family:

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Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 70

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 70:

³¹ (show all 19)

#	Description	HPO Frequency	HPO Source Accession
1	scoliosis ³¹	very rare (1%)	HP:0002650
2	abnormal facial shape ³¹	very rare (1%)	HP:0001999
3	flexion contracture ³¹	very rare (1%)	HP:0001371
4	spastic tetraparesis ³¹	very rare (1%)	HP:0001285
5	brain imaging abnormality ³¹	very rare (1%)	HP:0410263
6	global developmental delay ³¹		HP:0001263
7	hypertelorism ³¹		HP:0000316
8	microcephaly ³¹		HP:0000252
9	narrow mouth ³¹		HP:0000160
10	cryptorchidism ³¹		HP:0000028
11	low-set ears ³¹		HP:0000369
12	cerebral cortical atrophy ³¹		HP:0002120
13	ventriculomegaly ³¹		HP:0002119
14	poor head control ³¹		HP:0002421
15	generalized hypotonia ³¹		HP:0001290
16	hypsarrhythmia ³¹		HP:0002521
17	epileptic encephalopathy ³¹		HP:0200134
18	delayed myelination ³¹		HP:0012448
19	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
global developmental delay
poor head control
epileptic encephalopathy
delayed myelination
enlarged ventricles
more

Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Spine:
scoliosis (1 patient)

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Head And Neck Eyes:
hypertelorism
short eyebrows

Head And Neck Ears:
low-set ears

Head And Neck Mouth:
small mouth

Head And Neck Head:
small head circumference

Skeletal:
joint contractures (1 patient)

Growth Height:
low normal height

Clinical features from OMIM:

618298

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Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 70

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 70

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Genetic Tests for Epileptic Encephalopathy, Early Infantile, 70

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 70:

#	Genetic test	Affiliating Genes
1	Epileptic Encephalopathy, Early Infantile, 70 ²⁹	PHACTR1

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Anatomical Context for Epileptic Encephalopathy, Early Infantile, 70

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 70:

⁴⁰

Brain

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Publications for Epileptic Encephalopathy, Early Infantile, 70

Articles related to Epileptic Encephalopathy, Early Infantile, 70:

#	Title	Authors	PMID	Year
1	De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. ⁵⁶ ⁶	Hamada N...Nagata KI	30256902	2018
2	Diagnostic exome sequencing in persons with severe intellectual disability. ⁵⁶ ⁶	de Ligt J...Vissers LE	23033978	2012
3	Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. ⁶	Edvardson S...Elpeleg O	23339110	2013
4	Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. ⁶	Zhou L...Tissir F	18487195	2008

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Genes for Epileptic Encephalopathy, Early Infantile, 70

Genes related to Epileptic Encephalopathy, Early Infantile, 70 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PHACTR1	Phosphatase And Actin Regulator 1	Protein Coding	1318.26	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23033978 30256902
2	TBC1D7-LOC100130357	TBC1D7-LOC100130357 Readthrough	Protein Coding	8.11	GeneCards inferred via : Variants (show sections)
3	LOC100130357	Uncharacterized LOC100130357	RNA Gene	7.76	GeneCards inferred via : Variants (show sections)

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Variations for Epileptic Encephalopathy, Early Infantile, 70

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PHACTR1	NM_001318809.1(TBC1D7-LOC100130357):c.40-15638G>A	SNV	Pathogenic	617490	rs748743403	6:13283705-13283705	6:13283473-13283473
2	PHACTR1	NM_030948.3:c.1499T>C	SNV	Pathogenic	617491	rs1562114406
3	PHACTR1	NM_001318809.1(TBC1D7-LOC100130357):c.40-5069T>A	SNV	Pathogenic	617492	rs1562103192	6:13273136-13273136	6:13272904-13272904

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PHACTR1	p.Arg521Cys	VAR_069379	rs748743403
2	PHACTR1	p.Asn479Ile	VAR_081810
3	PHACTR1	p.Leu500Pro	VAR_081811

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Expression for Epileptic Encephalopathy, Early Infantile, 70

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 70.

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Pathways for Epileptic Encephalopathy, Early Infantile, 70

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GO Terms for Epileptic Encephalopathy, Early Infantile, 70

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Sources for Epileptic Encephalopathy, Early Infantile, 70

¹ BioSystems

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Epileptic Encephalopathy, Early Infantile, 70 (EIEE70)

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 70

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 70:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epileptic Encephalopathy, Early Infantile, 70

Related Diseases for Epileptic Encephalopathy, Early Infantile, 70

Diseases in the Early Infantile Epileptic Encephalopathy family:

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 70

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 70:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 70

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 70

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 70:

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 70

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 70:

Publications for Epileptic Encephalopathy, Early Infantile, 70

Articles related to Epileptic Encephalopathy, Early Infantile, 70:

Genes for Epileptic Encephalopathy, Early Infantile, 70

Genes related to Epileptic Encephalopathy, Early Infantile, 70 (1 elite genes):

Variations for Epileptic Encephalopathy, Early Infantile, 70

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

Expression for Epileptic Encephalopathy, Early Infantile, 70

Pathways for Epileptic Encephalopathy, Early Infantile, 70

GO Terms for Epileptic Encephalopathy, Early Infantile, 70

Sources for Epileptic Encephalopathy, Early Infantile, 70