EPVB6D
MCID: EPL166
MIFTS: 19

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 75 29 6
Epvb6d 57 75

Characteristics:

OMIM:

57
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:

32
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)

MalaCards based summary : Epilepsy, Early-Onset, Vitamin B6-Dependent, is also known as epvb6d. 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 brain atrophy and intellectual disability

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

Prenatal Manifestations Movement:
abnormal fetal movements

Laboratory Abnormalities:
increased lactate (in some patients)

Muscle Soft Tissue:
hypertonia

Metabolic Features:
metabolic acidosis (in some patients)

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

Abdomen Gastrointestinal:
gastrointestinal dysfunction (in some patients)


Clinical features from OMIM:

617290

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 occasional (7.5%) HP:0012444
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 respiratory insufficiency 32 HP:0002093
5 clonus 32 HP:0002169
6 global developmental delay 32 HP:0001263
7 abnormal facial shape 32 occasional (7.5%) HP:0001999
8 hypertonia 32 HP:0001276
9 myoclonus 32 HP:0001336
10 apnea 32 HP:0002104
11 ventriculomegaly 32 HP:0002119
12 metabolic acidosis 32 occasional (7.5%) HP:0001942
13 postnatal microcephaly 32 HP:0005484
14 poor speech 32 HP:0002465

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:

41
Brain

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

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

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

75
# 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

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLPBP NM_007198.3(PLPBP): c.233C> G (p.Ser78Ter) single nucleotide variant Pathogenic rs1057519273 GRCh38 Chromosome 8, 37765736: 37765736
2 PLPBP NM_007198.3(PLPBP): c.233C> G (p.Ser78Ter) single nucleotide variant Pathogenic rs1057519273 GRCh37 Chromosome 8, 37623254: 37623254
3 PLPBP NM_007198.3(PLPBP): c.524T> C (p.Leu175Pro) single nucleotide variant Pathogenic rs752753379 GRCh38 Chromosome 8, 37775408: 37775408
4 PLPBP NM_007198.3(PLPBP): c.524T> C (p.Leu175Pro) single nucleotide variant Pathogenic rs752753379 GRCh37 Chromosome 8, 37632926: 37632926
5 PLPBP NM_007198.3(PLPBP): c.207+1G> A single nucleotide variant Pathogenic rs767795673 GRCh37 Chromosome 8, 37623152: 37623152
6 PLPBP NM_007198.3(PLPBP): c.207+1G> A single nucleotide variant Pathogenic rs767795673 GRCh38 Chromosome 8, 37765634: 37765634
7 PLPBP NM_007198.3(PLPBP): c.320-2A> G single nucleotide variant Pathogenic rs1057519424 GRCh37 Chromosome 8, 37630271: 37630271
8 PLPBP NM_007198.3(PLPBP): c.320-2A> G single nucleotide variant Pathogenic rs1057519424 GRCh38 Chromosome 8, 37772753: 37772753
9 PLPBP NM_007198.3(PLPBP): c.260C> T (p.Pro87Leu) single nucleotide variant Pathogenic rs755946598 GRCh37 Chromosome 8, 37623814: 37623814
10 PLPBP NM_007198.3(PLPBP): c.260C> T (p.Pro87Leu) single nucleotide variant Pathogenic rs755946598 GRCh38 Chromosome 8, 37766296: 37766296
11 PLPBP NM_007198.3(PLPBP): c.722G> A (p.Arg241Gln) single nucleotide variant Pathogenic rs760609867 GRCh37 Chromosome 8, 37635516: 37635516
12 PLPBP NM_007198.3(PLPBP): c.722G> A (p.Arg241Gln) single nucleotide variant Pathogenic rs760609867 GRCh38 Chromosome 8, 37777998: 37777998

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

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