Vitamin B
            <sub>6</sub>
            –responsive epilepsy due to inherited GPI deficiency

Kuki, Ichiro; Takahashi, Yukitoshi; Okazaki, Shin; Kawawaki, Hisashi; Ehara, Eiji; Inoue, Norimitsu; Kinoshita, Taroh; Murakami, Yoshiko

doi:10.1212/wnl.0b013e3182a8411a

Cited by 88 publications

(110 citation statements)

References 7 publications

Supporting

Mentioning

107

Contrasting

Order By: Relevance

“…The only other genetically defined disorder in which a high plasma to CSF PLP ratio has been documented is hypophosphatasia due to mutations in alkaline phosphatase (ALPL). Defects in GPI anchor biosynthesis can also cause B 6 -responsive epilepsy (Kuki et al 2013) due to a decrease of the membrane-associated tissue non-specific alkaline phosphatase required to allow PLP to enter the brain. No potentially pathogenic variants were found in these genes.…”

Section: Discussionmentioning

confidence: 99%

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Reid¹,

Hj²,

Stabej³

et al. 2015

JIMD Reports

View full text Add to dashboard Cite

There is increasing evidence that vitamin B 6 , given either as pyridoxine or pyridoxal 5 0 -phosphate, can sometimes result in improved seizure control in idiopathic epilepsy. Whole-exome sequencing was used to identify a de novo mutation (c.629G>A; p.Arg210His) in KCNQ2 in a 7-year-old patient whose neonatal seizures showed a response to pyridoxine and who had a high plasma to CSF pyridoxal 5 0 -phosphate ratio, usually indicative of an inborn error of vitamin B 6 metabolism. This mutation has been described in three other patients with neonatal epileptic encephalopathy. A review of the literature was performed to assess the effectiveness of vitamin B 6 treatment in patients with a KCNQ2 channelopathy. Twenty-three patients have been reported to have been trialled with B 6

show abstract

Section: Discussionmentioning

confidence: 99%

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Reid¹,

Hj²,

Stabej³

et al. 2015

JIMD Reports

View full text Add to dashboard Cite

show abstract

“…Patients with hypophosphatasia, caused by a mutation in the tissue non-specific alkaline phosphatase ( TNAP ) gene, also suffer from seizures, the mechanism of which was analysed using TNAP knockout mice 18. Membrane permeable pyridoxine treatment was very effective for treating intractable seizures in some cases with IGD 19 20. Additionally, an abnormally high intensity region in the brain stem on T2 MRI was a common characteristic among recent IGD cases 20.…”

Section: Discussionmentioning

confidence: 99%

“…Membrane permeable pyridoxine treatment was very effective for treating intractable seizures in some cases with IGD 19 20. Additionally, an abnormally high intensity region in the brain stem on T2 MRI was a common characteristic among recent IGD cases 20. If we regard the response to pyridoxine treatment and the characteristic findings in brain MRI as clues, we can screen patients using FACS analysis of their peripheral blood.…”

Section: Discussionmentioning

confidence: 99%

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

et al. 2013

View full text Add to dashboard Cite

show abstract

“…CD16 and several other GPI-APs were significantly decreased on granulocytes as determined by flow cytometry, showing the usefulness of flow-cytometric determination of CD16 levels on blood granulocytes in the diagnosis of IGDs. 70) HPMRS caused by PIGV and PIGO mutations are termed HPMRS type 1 and HPMRS type 2 (HPMRS1 and HPMRS2), respectively.…”

Section: Gpi Deficiencies Caused By Somatic and Germline Mutations Inmentioning

confidence: 99%

Biosynthesis and deficiencies of glycosylphosphatidylinositol

Kinoshita

2014

Proc. Jpn. Acad., Ser. B

123

111

View full text Add to dashboard Cite

At least 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI). GPI preassembled in the endoplasmic reticulum is attached to the protein’s carboxyl-terminus as a post-translational modification by GPI transamidase. Twenty-two PIG (for Phosphatidyl Inositol Glycan) genes are involved in the biosynthesis and protein-attachment of GPI. After attachment to proteins, both lipid and glycan moieties of GPI are structurally remodeled in the endoplasmic reticulum and Golgi apparatus. Four PGAP (for Post GPI Attachment to Proteins) genes are involved in the remodeling of GPI. GPI-anchor deficiencies caused by somatic and germline mutations in the PIG and PGAP genes have been found and characterized. The characteristics of the 26 PIG and PGAP genes and the GPI deficiencies caused by mutations in these genes are reviewed.

show abstract

Vitamin B ₆ –responsive epilepsy due to inherited GPI deficiency

Cited by 88 publications

References 7 publications

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

Biosynthesis and deficiencies of glycosylphosphatidylinositol

Contact Info

Product

Resources

About

Vitamin B 6 –responsive epilepsy due to inherited GPI deficiency

Cited by 88 publications

References 7 publications

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

Biosynthesis and deficiencies of glycosylphosphatidylinositol

Contact Info

Product

Resources

About

Vitamin B ₆ –responsive epilepsy due to inherited GPI deficiency