DEPDC5-Related Epilepsy.
Baulac S, Baldassari S.
2016 Sep 29 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
TBC1D24-Related Disorders.
Balestrini S, Campeau PM, Mei D, Guerrini R, Sisodiya S.
2015 Feb 26 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R.
Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7.
PAX2-Related Disorder.
Bower MA, Schimmenti LA, Eccles MR.
2007 Jun 8 [updated 2018 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Millevert C, Weckhuysen S; ILAE Genetics Commission.
Epileptic Disord. 2023 Aug;25(4):445-453. doi: 10.1002/epd2.20026. Epub 2023 Jun 22.
Familial Cerebral Cavernous Malformations.
Flemming KD, Smith E, Marchuk D, Derry WB.
2003 Feb 24 [updated 2023 Jul 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
TRPpathies.
Kiselyov K, Soyombo A, Muallem S.
J Physiol. 2007 Feb 1;578(Pt 3):641-53. doi: 10.1113/jphysiol.2006.119024. Epub 2006 Nov 30.
Idiopathic focal epilepsies.
Vigevano F, Specchio N, Fejerman N.
Handb Clin Neurol. 2013;111:591-604. doi: 10.1016/B978-0-444-52891-9.00061-0.
Benign neonatal seizures.
Miles DK, Holmes GL.
J Clin Neurophysiol. 1990 Jul;7(3):369-79. doi: 10.1097/00004691-199007000-00004.
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
Baulac S.
Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.
