Associated Papers
Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability.
de Arruda Sampaio PHM et al.
American Journal of Medical Genetics. Part A, 2026
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Record CJ et al.
Annals of Neurology, 2025
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
37596007 (PubMed )
Supplement: mmc1.pdf
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A et al.
Genes, 2021
Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.
Parsamanesh N et al.
Journal of Molecular Neuroscience : Mn, 2019
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P et al.
American Journal of Human Genetics, 2016
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