Vitamin B6-responsive epilepsy due to inherited GPI deficiencyichiro

Neurology

Volumn 81, Issue 16, 2013, Pages 1467-1469

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

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; GENOMIC DNA; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; PYRIDOXINE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANIMAL CELL; ANTICONVULSANT THERAPY; CASE REPORT; CENTRAL SLEEP APNEA SYNDROME; CEREBELLUM ATROPHY; CHILD; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FALLOT TETRALOGY; FINGER MALFORMATION; FOCAL EPILEPSY; GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; GRANULOCYTE; GROWTH RETARDATION; HEARING IMPAIRMENT; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMAN; HYPOPHOSPHATASIA; LEUKOENCEPHALOPATHY; MALE; MUSCLE HYPOTONIA; NONHUMAN; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHALANX HYPOPLASIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SCHOOL CHILD; VITAMIN SUPPLEMENTATION;

BRAIN; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; TREATMENT OUTCOME; VITAMIN B 6; VITAMIN B COMPLEX;

EID: 84888238230     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a8411a     Document Type: Note

References (7)

1. Kinoshita T, Fujita M, Maeda Y. Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. J Biochem 2008;144:287-294.
2. Krawitz PM, Schweiger MR, Rodelsperger C, et al. Identity-bydescent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010;42:827-829.
3. Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 2012;91:146-151.
4. Krawitz PM, Murakami Y, Riess A, et al. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet 2013;92:584-589.
5. Murakami Y, Kanzawa N, Saito K, et al.Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem 2012;287:6318-6325.
6. Thompson MD, Killoran A, Percy ME, Nezarati M, Cole DE, Hwang PA. Hyperphosphatasia with neurologic deficit: A pyridoxine-responsive seizure disorder? Pediatr Neurol 2006;34:303-307.
7. Waymire KG, Mahuren JD, Jaje JM, Guilarte TR, Coburn SP, MacGregor GR. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet 1995;11:45-51.