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Literature DB >> 32170034

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.

Laurence Gauquelin¹, Cynthia Hawkins¹, Emily W Y Tam¹, Steven P Miller¹, Grace Yoon².

Abstract

Entities: Chemical Disease

Year: 2020 PMID： 32170034 DOI： 10.1212/WNL.0000000000009223

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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2 in total

1. Complex effects on Ca_V2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

Authors: Benjamin J Grosso; Audra A Kramer; Sidharth Tyagi; Daniel F Bennett; Cynthia J Tifft; Precilla D'Souza; Michael F Wangler; Ellen F Macnamara; Ulises Meza; Roger A Bannister
Journal: Sci Rep Date: 2022-06-02 Impact factor: 4.996

2. R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report.

Authors: Anker Stubberud; Emer O'Connor; Erling Tronvik; Henry Houlden; Manjit Matharu
Journal: Case Rep Neurol Date: 2021-02-16

2 in total

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.

1. Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

2. R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report.

1. Complex effects on Ca_V2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.