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A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins

Ling-Ling Xie1, Xiao-Jie Song1, Tian-Yi Li1

  • 1Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, China.

Brain & Development
|March 6, 2018
PubMed

Insights

A novel PIGA gene mutation caused early-onset epileptic encephalopathies in male twins. This genetic finding links PIGA mutations to severe neurological conditions in infants.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Early-onset epileptic encephalopathies present significant diagnostic and therapeutic challenges.
  • Identifying the genetic underpinnings of these severe neurological disorders is crucial for understanding disease mechanisms.

Observation:

  • A case study involving 14-month-old male monozygotic twins with intractable epilepsy, developmental delay, hypotonia, opisthotonus, and dysmorphism.
  • Seizures began at 6 months of age, characterized as refractory partial and generalized tonic-clonic or myoclonic.
  • Electroencephalograms showed left occipital fast activity and generalized polyspike-wave discharges; brain MRI was normal.

Findings:

  • A de novo germline hemizygous mutation (C.110 T>C, p.37 M>T) was identified in exon 2 of the PIGA gene.
  • This mutation is novel and directly implicated in the observed early-onset epileptic encephalopathies.

Implications:

  • This discovery expands the known spectrum of PIGA-associated disorders.
  • Highlights the importance of genetic testing for PIGA mutations in infants with unexplained early-onset epilepsy and developmental issues.
  • Provides a potential molecular target for future therapeutic strategies in PIGA-related encephalopathies.

Keywords:
DysmorphisEarly onset epileptic encephalopathiesPIGA

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