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Literature DB >> 29417424

KIAA2022-related disorders can cause Jeavons (eyelid myoclonia with absence) syndrome.

Debopam Samanta¹, Erin Willis².

Abstract

Entities: Disease Gene

Year: 2018 PMID： 29417424 DOI： 10.1007/s13760-018-0887-y

Source DB: PubMed Journal: Acta Neurol Belg ISSN： 0300-9009 Impact factor: 2.396

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5 in total

1. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

Authors: Elizabeth E Palmer; Renee Carroll; Marie Shaw; Raman Kumar; Andre E Minoche; Melanie Leffler; Lucinda Murray; Rebecca Macintosh; Dale Wright; Chris Troedson; Fiona McKenzie; Sharron Townshend; Michelle Ward; Urwah Nawaz; Anja Ravine; Cassandra K Runke; Erik C Thorland; Marybeth Hummel; Nicola Foulds; Olivier Pichon; Bertrand Isidor; Cédric Le Caignec; Bénédicte Demeer; Joris Andrieux; Salam Hadah Albarazi; Ann Bye; Rani Sachdev; Edwin P Kirk; Mark J Cowley; Mike Field; Jozef Gecz
Journal: Am J Hum Genet Date: 2020-11-06 Impact factor: 11.025

KIAA2022-related disorders can cause Jeavons (eyelid myoclonia with absence) syndrome.

1. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

2. Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.

3. Torpedo Maculopathy Associated with NEXMIF Mutation.

4. Case Report: A Case of Eyelid Myoclonic Status With Tonic-Clonic Seizure and Literature Review.

Review 5. Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.