NEDNEH
MCID: NRD071
MIFTS: 13

Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements (NEDNEH)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Seizures and Nonepileptic...

MalaCards integrated aliases for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

Name: Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 57 6
Nedneh 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
onset in infancy or first years of life
some patients may have early normal development


Classifications:



External Ids:

OMIM 57 618497

Summaries for Neurodevelopmental Disorder with Seizures and Nonepileptic...

OMIM : 57 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019). (618497)

MalaCards based summary : Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements, is also known as nedneh. An important gene associated with Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements is CACNA1B (Calcium Voltage-Gated Channel Subunit Alpha1 B).

Related Diseases for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
poor visual fixation
cortical visual impairment

Muscle Soft Tissue:
central hypotonia
peripheral hypertonia

Respiratory:
respiratory infections, recurrent

Head And Neck Face:
oromotor dyskinesia

Neurologic Central Nervous System:
developmental regression
global developmental delay
myoclonus
absent speech
dystonia
more
Head And Neck Head:
microcephaly, postnatal

Abdomen Gastrointestinal:
tube feeding

Clinical features from OMIM:

618497

Drugs & Therapeutics for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements

Genetic Tests for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Anatomical Context for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Publications for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Articles related to Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

# Title Authors PMID Year
1
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 8 71
30982612 2019

Variations for Neurodevelopmental Disorder with Seizures and Nonepileptic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1B NM_000718.4(CACNA1B): c.3665del (p.Leu1222fs) deletion Pathogenic 9:140943722-140943722 9:138049270-138049270
2 CACNA1B NM_000718.4(CACNA1B): c.3573_3574del (p.Gly1192fs) deletion Pathogenic 9:140941880-140941881 9:138047428-138047429
3 CACNA1B NM_000718.4(CACNA1B): c.4857+1G> C single nucleotide variant Pathogenic 9:140968519-140968519 9:138074067-138074067
4 CACNA1B NM_000718.4(CACNA1B): c.1147C> T (p.Arg383Ter) single nucleotide variant Pathogenic 9:140850226-140850226 9:137955774-137955774

Expression for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements.

Pathways for Neurodevelopmental Disorder with Seizures and Nonepileptic...

GO Terms for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Sources for Neurodevelopmental Disorder with Seizures and Nonepileptic...

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