Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Epileptic encephalopathy



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PMID (PMCID)
29366381
 FEMALE
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Epperson MV, Haws ME, Standridge SM, Gilbert DL.
J Child Neurol. 2018;33(4):286-289.
Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome.
21802232
 FEMALE Child
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.
Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N.
Brain Dev. 2012;34(5):364-7.
We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features.
21835657
 OTHER Child
Movement disorder emergencies in childhood.
Kirkham FJ, Haywood P, Kashyape P, Borbone J, Lording A, Pryde K, Cox M, Keslake J, Smith M, Cuthbertson L, Murugan V, Mackie S, Thomas NH, Whitney A, Forrest KM, Parker A, Forsyth R, Kipps CM.
Eur J Paediatr Neurol. 2011;15(5):390-404.
Other important non-inflammatory movement disorders, typically seen in symptomatic children with underlying aetiologies such as trauma, severe cerebral palsy, epileptic encephalopathy, Down syndrome and Rett syndrome, include dystonic posturing secondary to gastro-oesophageal reflux (Sandifer syndrome) and Paroxysmal Autonomic Instability with Dystonia(PAID) or autonomic 'storming'.
19161156
 MALE Infant
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.
Am J Med Genet A. 2009;149A(2):232-6.
The resulting phenotype is characterized by a severe early-onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome.
19161156
 MALE Infant
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.
Am J Med Genet A. 2009;149A(2):232-6.
Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy.