Literature DB >> 35445667

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.

Michelle C do Rosario1, Parneet Kaur1, Katta Mohan Girisha1, Stephanie Bielas2, Anju Shukla1.   

Abstract

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Year:  2022        PMID： 35445667      PMCID： PMC9474726          DOI： 10.1097/MCD.0000000000000423

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.884


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  7 in total

1.  The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

Authors:  R Watanabe; N Inoue; B Westfall; C H Taron; P Orlean; J Takeda; T Kinoshita
Journal:  EMBO J       Date:  1998-02-16       Impact factor: 11.598

Review 2.  Maturation of the human brain and epilepsy.

Authors:  Gregory L Holmes; M D Mathieu Milh; Olivier Dulac
Journal:  Handb Clin Neurol       Date:  2012

3.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Authors:  Kai Wang; Mingyao Li; Hakon Hakonarson
Journal:  Nucleic Acids Res       Date:  2010-07-03       Impact factor: 16.971

4.  A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

Authors:  Thi Tuyet Mai Nguyen; Sonal Mahida; Constance Smith-Hicks; Philippe M Campeau
Journal:  Hum Mutat       Date:  2018-04-26       Impact factor: 4.878

5.  A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Authors:  Alistair T Pagnamenta; Yoshiko Murakami; Consuelo Anzilotti; Hannah Titheradge; Adam J Oates; Jenny Morton; Taroh Kinoshita; Usha Kini; Jenny C Taylor
Journal:  Hum Mutat       Date:  2018-03-30       Impact factor: 4.878

6.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438

7.  PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Authors:  Camille Tremblay-Laganière; Rauan Kaiyrzhanov; Reza Maroofian; Thi Tuyet Mai Nguyen; Kamran Salayev; Ilana T Chilton; Wendy K Chung; Jill A Madden; Chanika Phornphutkul; Pankaj B Agrawal; Henry Houlden; Philippe M Campeau
Journal:  Clin Genet       Date:  2020-11-27       Impact factor: 4.296
  7 in total

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