Article
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Annals of neurology - 1 Feb 2025
Record Christopher J, O'Connor Antoinette, Verbeek Nienke E, van Rheenen Wouter, Zamba Papanicolaou Eleni, Peric Stojan, Ligthart Peter C, Skorupinska Mariola, van Binsbergen Ellen, Campeau Philippe M, Ivanovic Vukan, Hennigan Brian, McHugh John C, Blake Julian C, Murakami Yoshiko, Laura Matilde, Murphy Sinéad M, Reilly Mary M
Abstract excerpt
Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood-onset motor neuropathy and neurophysiology demonstrating variable motor conduction block and temporal dispersion. All individuals had a childhood onset tremor, 5 of 8 had cerebellar involvement, and...
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