Associated Papers
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J et al.
Brain : a Journal of Neurology, 2024
38456468 (PubMed )
Supplement: awae056_supplementary_data.zip › brain-2023-02061-File008.pdf
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Martín-Grau C et al.
Clinical Genetics, 2023
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
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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