NEDNEH
MCID: NRD071
MIFTS: 21

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 73 29 6
Neurodevelopmental Disorder with Seizures and Non-Epileptic Hyperkinetic Movements 73 17
Nedneh 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements:
Inheritance autosomal recessive inheritance


Classifications:



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) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements, is also known as neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements. An important gene associated with Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements is CACNA1B (Calcium Voltage-Gated Channel Subunit Alpha1 B). Related phenotypes are cerebral atrophy and nystagmus

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements: An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life.

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

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

Human phenotypes related to Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 31 very rare (1%) HP:0002059
2 nystagmus 31 HP:0000639
3 developmental regression 31 HP:0002376
4 global developmental delay 31 HP:0001263
5 recurrent respiratory infections 31 HP:0002205
6 myoclonus 31 HP:0001336
7 strabismus 31 HP:0000486
8 absent speech 31 HP:0001344
9 dystonia 31 HP:0001332
10 choreoathetosis 31 HP:0001266
11 postnatal microcephaly 31 HP:0005484
12 inability to walk 31 HP:0002540
13 cerebral visual impairment 31 HP:0100704
14 epileptic encephalopathy 31 HP:0200134
15 hyperkinetic movements 31 HP:0002487
16 seizure 31 HP:0001250
17 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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...

Genetic tests related to Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 29 CACNA1B

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. 57 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1B NM_000718.4(CACNA1B):c.3665del (p.Leu1222fs) Deletion Pathogenic 635833 rs1589095160 9:140943722-140943722 9:138049270-138049270
2 CACNA1B NM_000718.4(CACNA1B):c.3573_3574del (p.Gly1192fs) Deletion Pathogenic 635834 rs1589093778 9:140941880-140941881 9:138047428-138047429
3 CACNA1B NM_000718.4(CACNA1B):c.4857+1G>C SNV Pathogenic 635835 rs1589112601 9:140968519-140968519 9:138074067-138074067
4 CACNA1B NM_000718.4(CACNA1B):c.1147C>T (p.Arg383Ter) SNV Pathogenic 635836 rs1554738159 9:140850226-140850226 9:137955774-137955774
5 CACNA1B NM_000718.4(CACNA1B):c.967-8G>A SNV Uncertain significance 774891 rs78177919 9:140846718-140846718 9:137952266-137952266
6 CACNA1B NM_000718.4(CACNA1B):c.2093-4C>A SNV Likely benign 770757 rs76062311 9:140904458-140904458 9:138010006-138010006
7 CACNA1B NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del) Deletion Benign 802556 rs145816559 9:140918171-140918185 9:138023719-138023733
8 CACNA1B NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys) SNV Benign 802555 rs4422842 9:140777306-140777306 9:137882854-137882854

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...

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
39 LOVD
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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