Results 1 -
9
of
9
for
Developmental epileptic "encephalopathy," 26
- ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization for ...
- ... year of life. J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11. Citation on PubMed
- ... show signs and symptoms of the condition. EIEE10 Epileptic ... Mech Ageing Dev. 2017 Jan;161(Pt A):121-129. doi: 10.1016/j.mad.2016.04.009. Epub 2016 Apr 26. Citation on PubMed or Free article on PubMed ...
- ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... 10.1089/ars.2013.5614. Epub 2013 Oct 26. Citation on PubMed ... mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
- ... mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018 Nov;17(8):e12456. doi: 10.1111/gbb.12456. Epub 2018 Jan 26. Citation on PubMed
- ... 10.1136/jmg.2008.060129. Epub 2008 Aug 26. Citation on PubMed
- ... with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700, ...
- ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
- ... and some affected children lose already-acquired skills (developmental ... seizures and epilepsy. For example, one affected family member may have ...