Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Last Posted: Aug 02, 2018
- Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.
Mullen Saul A et al. Neurology 2018 90(1) e67-e72
- Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.
Chen Zhihong, et al. International journal of clinical and experimental medicine 2015 0 (6) 9063-70
- [Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy].
Zhai Qiong-xiang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 12 (6) 662-5
- Gene-Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population.
Qu J, et al. CNS neuroscience & therapeutics 2013 11
- The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy.
Liu Hui, et al. Epilepsy research 2011 6 (1-2) 94-9
- [Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy].
Chen Zhi-hong, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2011 2 (1) 14-8
- The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.
Rozycka Agata, et al. Seizure 2009 10 (8) 601-3
- A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.
Chen Yan, et al. Epilepsy research 2009 2 (2-3) 152-6
- A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely.
Gu Wenli, et al. Neuroscience letters 2007 7 (1) 74-6
- Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions.
Chou I-Ching, et al. Epilepsia 2003 8 (8) 1089-93
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Quick Links to Other Resources
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.