TBC1D24-Related Disorders.
Balestrini S, Campeau PM, Mei D, Guerrini R, Sisodiya S.
2015 Feb 26 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
DEPDC5-Related Epilepsy.
Baulac S, Baldassari S.
2016 Sep 29 [updated 2023 Mar 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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.
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 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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.
[Cerebral cavernous malformations].
Koht J, Braathen GJ, Neubert D, Russell MB.
Tidsskr Nor Laegeforen. 2005 Aug 11;125(15):2008-10.
Huntington's disease.
Stewart JT.
Am Fam Physician. 1988 May;37(5):105-14.
Familial dermographism.
Jedele KB, Michels VV.
Am J Med Genet. 1991 May 1;39(2):201-3. doi: 10.1002/ajmg.1320390216.
