EPVB6D
MCID: EPL166
MIFTS: 25

Epilepsy, Early-Onset, Vitamin B6-Dependent (EPVB6D)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Early-Onset, Vitamin B6-Dependent

MalaCards integrated aliases for Epilepsy, Early-Onset, Vitamin B6-Dependent:

Name: Epilepsy, Early-Onset, Vitamin B6-Dependent 57 72 29 6
Early-Onset Vitamin B6-Dependent Epilepsy 12 36
Epvb6d 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first days or months of life
seizures are responsive to treatment with pyridoxine or activated vitamin b6
multiple anticonvulsants are needed to control seizures


HPO:

31
epilepsy, early-onset, vitamin b6-dependent:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Early-Onset, Vitamin B6-Dependent

OMIM® : 57 Early-onset vitamin B6-dependent epilepsy is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development (summary by Darin et al., 2016). (617290) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Early-Onset, Vitamin B6-Dependent, also known as early-onset vitamin b6-dependent epilepsy, is related to epilepsy. An important gene associated with Epilepsy, Early-Onset, Vitamin B6-Dependent is PLPBP (Pyridoxal Phosphate Binding Protein). Affiliated tissues include brain, and related phenotypes are abnormal facial shape and metabolic acidosis

Disease Ontology : 12 An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has material basis in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11.

KEGG : 36 Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive disease, recently associated to mutations in PLPBP (PROSC) gene. PLPBP encodes a protein involved in pyridoxal phosphate (PLP) homeostasis. If patients are not effectively treated with vitamin B6 supplementation, they will have epilepsy with developmental delay early in life.

UniProtKB/Swiss-Prot : 72 Epilepsy, early-onset, vitamin B6-dependent: An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, mental retardation and learning disability. Seizures onset is in the first days or months of life.

Related Diseases for Epilepsy, Early-Onset, Vitamin B6-Dependent

Diseases related to Epilepsy, Early-Onset, Vitamin B6-Dependent via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.2

Symptoms & Phenotypes for Epilepsy, Early-Onset, Vitamin B6-Dependent

Human phenotypes related to Epilepsy, Early-Onset, Vitamin B6-Dependent:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 occasional (7.5%) HP:0001999
2 metabolic acidosis 31 occasional (7.5%) HP:0001942
3 brain atrophy 31 occasional (7.5%) HP:0012444
4 intellectual disability 31 HP:0001249
5 clonus 31 HP:0002169
6 respiratory insufficiency 31 HP:0002093
7 global developmental delay 31 HP:0001263
8 hypertonia 31 HP:0001276
9 myoclonus 31 HP:0001336
10 ventriculomegaly 31 HP:0002119
11 apnea 31 HP:0002104
12 postnatal microcephaly 31 HP:0005484
13 poor speech 31 HP:0002465
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
clonus
myoclonus
poor speech
enlarged ventricles
more
Respiratory:
respiratory insufficiency, neonatal
apnea, neonatal

Head And Neck Head:
microcephaly, acquired

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

Abdomen Gastrointestinal:
gastrointestinal dysfunction (in some patients)

Muscle Soft Tissue:
hypertonia

Metabolic Features:
metabolic acidosis (in some patients)

Laboratory Abnormalities:
increased lactate (in some patients)

Prenatal Manifestations Movement:
abnormal fetal movements

Clinical features from OMIM®:

617290 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Early-Onset, Vitamin B6-Dependent

Search Clinical Trials , NIH Clinical Center for Epilepsy, Early-Onset, Vitamin B6-Dependent

Genetic Tests for Epilepsy, Early-Onset, Vitamin B6-Dependent

Genetic tests related to Epilepsy, Early-Onset, Vitamin B6-Dependent:

# Genetic test Affiliating Genes
1 Epilepsy, Early-Onset, Vitamin B6-Dependent 29 PLPBP

Anatomical Context for Epilepsy, Early-Onset, Vitamin B6-Dependent

MalaCards organs/tissues related to Epilepsy, Early-Onset, Vitamin B6-Dependent:

40
Brain

Publications for Epilepsy, Early-Onset, Vitamin B6-Dependent

Articles related to Epilepsy, Early-Onset, Vitamin B6-Dependent:

# Title Authors PMID Year
1
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 6 57
27912044 2016
2
Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature. 61
33728241 2021

Variations for Epilepsy, Early-Onset, Vitamin B6-Dependent

ClinVar genetic disease variations for Epilepsy, Early-Onset, Vitamin B6-Dependent:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLPBP NM_007198.4(PLPBP):c.207+1G>A SNV Pathogenic 374854 rs767795673 GRCh37: 8:37623152-37623152
GRCh38: 8:37765634-37765634
2 PLPBP NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln) SNV Pathogenic 374857 rs760609867 GRCh37: 8:37635516-37635516
GRCh38: 8:37777998-37777998
3 PLPBP NM_007198.4(PLPBP):c.320-2A>G SNV Pathogenic 374855 rs1057519424 GRCh37: 8:37630271-37630271
GRCh38: 8:37772753-37772753
4 PLPBP NM_007198.4(PLPBP):c.524T>C (p.Leu175Pro) SNV Pathogenic 374853 rs752753379 GRCh37: 8:37632926-37632926
GRCh38: 8:37775408-37775408
5 PLPBP NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter) SNV Pathogenic 374852 rs1057519273 GRCh37: 8:37623254-37623254
GRCh38: 8:37765736-37765736
6 PLPBP NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) SNV Likely pathogenic 374856 rs755946598 GRCh37: 8:37623814-37623814
GRCh38: 8:37766296-37766296
7 PLPBP NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp) SNV Uncertain significance 802397 rs1384327533 GRCh37: 8:37633451-37633451
GRCh38: 8:37775933-37775933
8 PLPBP NM_007198.4(PLPBP):c.704T>G (p.Val235Gly) SNV Uncertain significance 802398 rs367850837 GRCh37: 8:37635498-37635498
GRCh38: 8:37777980-37777980
9 PLPBP NM_007198.4(PLPBP):c.773del (p.Pro258fs) Deletion Uncertain significance 816888 rs764045400 GRCh37: 8:37635564-37635564
GRCh38: 8:37778046-37778046
10 PLPBP NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn) SNV Uncertain significance 1027730 GRCh37: 8:37623081-37623081
GRCh38: 8:37765563-37765563
11 PLPBP NM_007198.4(PLPBP):c.347C>T (p.Thr116Ile) SNV Uncertain significance 1027731 GRCh37: 8:37630300-37630300
GRCh38: 8:37772782-37772782
12 PLPBP NM_007198.4(PLPBP):c.823C>G (p.His275Asp) SNV Uncertain significance 1027732 GRCh37: 8:37635617-37635617
GRCh38: 8:37778099-37778099
13 LOC113788277 , PLPBP NM_007198.4(PLPBP):c.40G>C (p.Gly14Arg) SNV Uncertain significance 1032529 GRCh37: 8:37620217-37620217
GRCh38: 8:37762699-37762699
14 PLPBP NM_007198.4(PLPBP):c.52C>T (p.Arg18Trp) SNV Uncertain significance 1032530 GRCh37: 8:37620229-37620229
GRCh38: 8:37762711-37762711

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Early-Onset, Vitamin B6-Dependent:

72
# Symbol AA change Variation ID SNP ID
1 PLPBP p.Pro87Leu VAR_078006 rs755946598
2 PLPBP p.Leu175Pro VAR_078007 rs752753379
3 PLPBP p.Arg241Gln VAR_078008 rs760609867

Expression for Epilepsy, Early-Onset, Vitamin B6-Dependent

Search GEO for disease gene expression data for Epilepsy, Early-Onset, Vitamin B6-Dependent.

Pathways for Epilepsy, Early-Onset, Vitamin B6-Dependent

GO Terms for Epilepsy, Early-Onset, Vitamin B6-Dependent

Sources for Epilepsy, Early-Onset, Vitamin B6-Dependent

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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