Sökning: onr:"swepub:oai:DiVA.org:uu-363992" >
De novo KCNA1 varia...
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
-
- Rogers, Amanda (författare)
- Washington Univ, Dept Neurol, 660 S Euclid Ave,Campus Box 8111, St Louis, MO 63110 USA
-
- Golumbek, Paul (författare)
- Washington Univ, Dept Neurol, 660 S Euclid Ave,Campus Box 8111, St Louis, MO 63110 USA
-
- Cellini, Elena (författare)
- Univ Florence, Anna Meyer Childrens Hosp, Florence, Italy
-
visa fler...
-
- Doccini, Viola (författare)
- Univ Florence, Anna Meyer Childrens Hosp, Florence, Italy
-
- Guerrini, Renzo (författare)
- Univ Florence, Anna Meyer Childrens Hosp, Florence, Italy
-
- Wallgren-Pettersson, Carina (författare)
- Univ Helsinki, Folkhaelsan Inst Genet, Dept Med & Clin Genet, Helsinki, Finland
-
- Thuresson, Ann-Charlotte (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
-
- Gurnett, Christina A. (författare)
- Washington Univ, Dept Neurol, 660 S Euclid Ave,Campus Box 8111, St Louis, MO 63110 USA
-
visa färre...
-
(creator_code:org_t)
- 2018-07-28
- 2018
- Engelska.
-
Ingår i: American Journal of Medical Genetics. Part A. - : John Wiley & Sons. - 1552-4825 .- 1552-4833. ; 176:8, s. 1748-1752
- Relaterad länk:
-
https://urn.kb.se/re...
-
visa fler...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- cognitive impairment
- epilepsy
- epileptic encephalopathy
- infantile epilepsy
- KCNA1
- KCNA2
- potassium channel mutation
- PVP motif
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas