Associated Papers
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Martín-Grau C et al.
Clinical Genetics, 2023
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A et al.
Molecular Genetics and Genomics : Mgg, 2022
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.
Vetro A et al.
Neurology. Genetics, 2020
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Krenn M et al.
Annals of Clinical and Translational Neurology, 2019
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL et al.
Human Molecular Genetics, 2017
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