临床医学名词词典

名词信息

中文名: 家族性（常染色体显性遗传）局灶性癫痫

英文名: familial （autosomal dominant） focal qiilepsy

中文又称: 家族性局灶性癫痫

中文曾称:

名词来源:

所属专业: 神经内科

所属类别: 疾病诊断名词

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Pubmed相关的文献

familial （autosomal dominant） focal qiilepsy相关文献:

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.

PMID:27683934

Fanconi Anemia.

Mehta PA, Ebens C.

2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

PMID:20301575

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.

PMID:25719194

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.

PMID:33838161

Huntington's disease.

Stewart JT.

Am Fam Physician. 1988 May;37(5):105-14.

PMID:2966545

PAX2-Related Disorder.

Bower MA, Schimmenti LA, Eccles MR.

2007 Jun 8 [updated 2025 Aug 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

PMID:20301624

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.

PMID:23622206

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.

PMID:36939707

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.

PMID:17138610

Benign neonatal seizures.

Miles DK, Holmes GL.

J Clin Neurophysiol. 1990 Jul;7(3):369-79. doi: 10.1097/00004691-199007000-00004.

PMID:2211994