|
Total: 31 |
|
| PMID (PMCID) | ||
|---|---|---|
|
30569584 |
MALE | Infant |
| An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. | ||
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Yoon JA, Yoo Y, Lee JS, Kim YM, Shin YB. Mol Genet Genomic Med. 2019;7(3):e532. |
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| An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. | ||
|
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. |
||
| Furthermore, she resembles the early seizure variant of Rett syndrome. | ||
|
30011151 |
FEMALE | Child |
| A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures. | ||
|
Shike T, Takahashi Y, Kimura N, Imai K, Yamamoto T, Takahashi T. No To Hattatsu. 2017;49(1):28-31. |
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| Such patients present with partial seizures and characteristic hand movements that are often observed in patients with Rett syndrome. | ||
|
28815309 |
FEMALE | Child |
| Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome. | ||
|
Ueda K, Sood S, Asano E, Kumar A, Luat AF. Childs Nerv Syst. 2017;33(11):1883-1887. |
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| We report an 8-year-old girl with Rett syndrome and medically intractable epileptic drop attacks who underwent endoscopic total corpus callosotomy without any complications that led to the successful elimination of her seizures. | ||
|
26927095 (4813169) |
MIXED_SAMPLE | Infant |
| Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. | ||
|
Imperatore V, Mencarelli MA, Fallerini C, Bianciardi L, Ariani F, Furini S, Renieri A, Mari F, Frullanti E. Int J Mol Sci. 2016;17(3):306. |
||
| He was the half-brother of a girl diagnosed at 7 years with the early-onset seizure variant of Rett syndrome due to CDKL5 mutation. | ||
|
22968132 |
MIXED_SAMPLE | Child |
| 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. | ||
|
Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J. Eur J Hum Genet. 2013;21(5):522-7. |
||
| Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. | ||
|
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. |
||
| Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features. | ||
|
22129046 |
MIXED_SAMPLE | |
| FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. | ||
|
Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A. Clin Genet. 2012;82(6):569-73. |
||
| Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. | ||
|
22148093 (3229023) |
OTHER | |
| Anesthetic management of an adult patient with Rett syndrome and limited mouth opening -A case report-. | ||
|
Nho JS, Shin DS, Moon JY, Yi JW, Kang JM, Lee BJ, Kim DO, Chung JY. Korean J Anesthesiol. 2011;61(5):428-30. |
||
| Rett syndrome is a neurological disease that occurs only in females and it manifests with mental retardation, seizures, movement disorders, autistic behavior and abnormal breathing. | ||
|
21293276 |
MIXED_SAMPLE | Infant |
| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. | ||
|
Bartnik M, Derwinska K, Gos M, Obersztyn E, Kolodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczynska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Genet Med. 2011;13(5):447-52. |
||
| The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype. | ||
|
22258043 |
FEMALE | Young Adult |
| Reflex seizures in Rett syndrome. | ||
|
Roche Martinez A, Alonso Colmenero MI, Gomes Pereira A, Sanmarti Vilaplana FX, Armstrong Moron J, Pineda Marfa M. Epileptic Disord. 2011;13(4):389-93. |
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| Epilepsy is common in Rett syndrome patients (up to 70%), but to the authors' knowledge, no pressure or eating-triggered seizures have yet been reported in Rett children. | ||
|
19455595 |
FEMALE | |
| Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. | ||
|
Bahi-Buisson N, Girard B, Gautier A, Nectoux J, Fichou Y, Saillour Y, Poirier K, Chelly J, Bienvenu T. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(1):202-7. |
||
| We report a 2-year-old girl with early onset seizures variant of Rett syndrome with a deletion at Xp22 detected by multiplex ligation-dependent probe amplification (MLPA) technique. | ||
|
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. |
||
| A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. | ||
|
19253388 |
FEMALE | |
| A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. | ||
|
Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A. Am J Med Genet A. 2009;149A(4):722-5. |
||
| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. | ||
|
18627055 |
FEMALE | Child |
| A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. | ||
|
Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A. Am J Med Genet A. 2008;146A(15):1994-8. |
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| Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. | ||
|
17256798 |
MALE | Infant |
| Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. | ||
|
Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP. Am J Med Genet A. 2007;143(4):364-9. |
||
| Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. | ||
|
17049193 |
FEMALE | Child |
| Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. | ||
|
Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. Brain Dev. 2007;29(4):239-42. |
||
| Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. | ||
|
16263320 |
FEMALE | Adult |
| Forensic issues and possible mechanisms of sudden death in Rett syndrome. | ||
|
Byard RW. J Clin Forensic Med. 2006;13(2):96-9. |
||
| Death was attributed to the complications of Rett syndrome, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, seizures and growth failure, caused by mutations in the MECP2 gene on the X chromosome. | ||
|
16813600 |
MIXED_SAMPLE | |
| Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. | ||
|
Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Clin Genet. 2006;70(1):29-33. |
||
| Moreover, this report reinforces the observation that the CDKL5 phenotype overlaps with Rett syndrome and that CDKL5 gene analysis is recommended in females with a seizure disorder commencing in the first weeks of life. | ||
|
15875198 |
FEMALE | Infant |
| Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. | ||
|
Giampietro PF, Schowalter DB, Merchant S, Campbell LR, Swink T, Roa BB. Childs Nerv Syst. 2006;22(3):320-4. |
||
| This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome. | ||