{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:26Z","timestamp":1780308086023,"version":"3.54.0"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>PIGG<\/jats:italic>\n                    (phosphatidylinositol glycan anchor biosynthesis, class G) disrupt glycosylphosphatidylinositol (GPI) anchoring of cell\u2010surface proteins. Recently, biallelic\n                    <jats:italic>PIGG<\/jats:italic>\n                    variants have been linked to motor neuropathy with conduction block and temporal dispersion, suggesting a role for defective GPI anchoring in peripheral nerve function. We describe a 27\u2010year\u2010old woman carrying a homozygous nonsense variant in\n                    <jats:italic>PIGG,<\/jats:italic>\n                    c.1515G&gt;A (p.Trp505*), presenting with continuous lower limb myokymia, gait ataxia, tremor and distal weakness since early adolescence. Electrophysiological evaluation revealed widespread myokymic discharges on electromyography, consistent with peripheral nerve hyperexcitability, and a pure motor polyneuropathy with temporal dispersion. This case report expands the clinical spectrum of\n                    <jats:italic>PIGG<\/jats:italic>\n                    \u2010related disorders by identifying peripheral nerve hyperexcitability as a defining feature. The potential mechanistic link between defective GPI anchoring and neuronal hyperexcitability mediated through impaired function of GPI\u2010anchored proteins such as contactin\u20101 and contactin\u20102 offers a compelling hypothesis connecting peripheral neuropathy, hyperexcitability, and cerebellar dysfunction.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70106","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:32:54Z","timestamp":1772998374000},"page":"1668-1672","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Phenotype of Biallelic\n                    <i>PIGG<\/i>\n                    Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7916-4096","authenticated-orcid":false,"given":"Pedro Henrique Marte","family":"de Arruda Sampaio","sequence":"first","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5867-6359","authenticated-orcid":false,"given":"Cristiane Araujo Martins","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Mendelics  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipe","family":"di Pace","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6369-3223","authenticated-orcid":false,"given":"Gabriella Corr\u00eaa","family":"Dousseau","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Department of Neurology Hospital Santa Marcelina  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara Gontijo","family":"Camelo","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Schlesinger","sequence":"additional","affiliation":[{"name":"Mendelics  S\u00e3o Paulo S\u00e3o Paulo 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