{"entity": "researcher", "timestamp": "2026-09-28T20:05:27.288Z", "family": "Rogers", "given": "Amanda", "initials": "A", "orcid": "0000-0002-1146-4332", "affiliations": ["Department of Neurology, Washington University in St. Louis, St. Louis, Missouri."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/41c1707234754879aed94a3256ff76b7.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/41c1707234754879aed94a3256ff76b7"}}, "publications": [{"entity": "publication", "iuid": "42494b5463d3450e926b6c7e1be4bbeb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/42494b5463d3450e926b6c7e1be4bbeb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/42494b5463d3450e926b6c7e1be4bbeb"}}, "title": "De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.", "authors": [{"family": "Rogers", "given": "Amanda", "initials": "A", "orcid": "0000-0002-1146-4332", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/41c1707234754879aed94a3256ff76b7.json"}}, {"family": "Golumbek", "given": "Paul", "initials": "P"}, {"family": "Cellini", "given": "Elena", "initials": "E"}, {"family": "Doccini", "given": "Viola", "initials": "V"}, {"family": "Guerrini", "given": "Renzo", "initials": "R"}, {"family": "Wallgren-Pettersson", "given": "Carina", "initials": "C"}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC"}, {"family": "Gurnett", "given": "Christina A", "initials": "CA"}], "type": "journal article", "published": "2018-08-00", "journal": {"title": "Am. J. Med. Genet. A", "issn": "1552-4833", "volume": "176", "issue": "8", "pages": "1748-1752", "issn-l": "1552-4825"}, "abstract": "Derangements in voltage-gated potassium channel function are responsible for a range of paroxysmal neurologic disorders. Pathogenic variants in the KCNA1 gene, which encodes the voltage-gated potassium channel Kv1.1, are responsible for Episodic Ataxia Type 1 (EA1). Patients with EA1 have an increased incidence of epilepsy, but KCNA1 variants have not been described in epileptic encephalopathy. Here, we describe four patients with infantile-onset epilepsy and cognitive impairment who harbor de novo KCNA1 variants located within the Kv-specific Pro-Val-Pro (PVP) motif which is essential for channel gating. The first two patients have KCNA1 variants resulting in (p.Pro405Ser) and (p.Pro405Leu), respectively, and a set of identical twins has a variant affecting a nearby residue (p.Pro403Ser). Notably, recurrent de novo variants in the paralogous PVP motif of KCNA2 have previously been shown to abolish channel function and also cause early-onset epileptic encephalopathy. Importantly, this report extends the range of phenotypes associated with KCNA1 variants to include epileptic encephalopathy when the PVP motif is involved.", "doi": "10.1002/ajmg.a.38840", "pmid": "30055040", "labels": [], "xrefs": [], "notes": [], "created": "2019-01-17T14:00:14.568Z", "modified": "2026-09-23T10:19:54.280Z"}]}