## Abstract Recent studies have shown that haploinsufficiency of __MEF2C__ causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, earlyβonset epileptic encephalopathy, and hypoplastic corpus callosum
Truncation of the CNS-expressedJNK3in a patient with a severe developmental epileptic encephalopathy
β Scribed by Sarah A. Shoichet; Laurence Duprez; Olivier Hagens; Vicki Waetzig; Corinna Menzel; Thomas Herdegen; Susann Schweiger; Bernard Dan; Esther Vamos; Hans-Hilger Ropers; Vera M. Kalscheuer
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 406 KB
- Volume
- 118
- Category
- Article
- ISSN
- 0340-6717
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