The movement disorders of Coffin–Lowry syndrome

Stephenson, John B.; Hoffman, Mary C.; Russell, Aline; Falconer, Jane; Beach, Richard; Tolmie, John; McWilliam, Robert; Zuberi, Sameer M.

doi:10.1016/j.braindev.2003.11.010

Cited by 34 publications

(20 citation statements)

References 10 publications

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“…Paroxysmal movement disorder is a particular problem for pa- Clinical Chemistry 51, No. 12,2005 tients with the p.R110X mutation, as was described recently (13 ). Although p.R110X is one of the few recurrent mutations of this gene, we were unable to find other clinical descriptions of female patients carrying this mutation, and the movement disorder in CLS, although common, is not well studied.…”

Section: Identification Of Novel Mutations In Patients Withmentioning

confidence: 73%

Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay

et al. 2005

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contributes the most to the variation between arrays prepared from 1 ng of starting total RNA. Our findings are consistent with mathematical simulations of PCR amplification illustrating that when transcripts with small copy numbers are amplified, the amplified gene population distribution is broad and has a large standard deviation (8, 9 ).In conclusion, the modified protocol greatly increases the sensitivity of array detection when as little as 1 ng of total RNA is amplified. Highly reproducible array data were obtained from different quantities of starting RNA that were amplified with different numbers of PCR cycles. The variation associated with minute samples can be effectively reduced with multiple replicates. The findings that when a minute sample is reverse-transcribed and amplified the sensitivity is determined mainly at the step of reverse transcription and that the reproducibility is largely controlled by the PCR reaction could guide the development of more powerful enzymes and methods.

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Section: Identification Of Novel Mutations In Patients Withmentioning

confidence: 73%

Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay

et al. 2005

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“…Heterozygous females are less severely affected. About 20% of individuals with CLS present stimulus-induced drop episodes (SIDEs) which typically start from middle childhood to the teens [Stephenson et al, 2005], and 5% of individuals are also reported to be affected by epileptic seizures [Touraine et al, 2002;Hahn and Hanauer, 2012]. To the best of our knowledge, this is the first description of status epilepticus in CLS.…”

mentioning

confidence: 85%

“…In large series, only 5% of patients with CLS were described to have epileptic seizures [Hunter, 2002;Stephenson et al, 2005], while other authors question if this truly represents an increased prevalence, as the occurrence of epilepsy is commonly reported in more than 5% of persons with mild learning disabilities and in up to 24% of persons with severe learning disabilities [Steffenburg et al, 1995;Lhatoo and Sander, 2001;Hahn and Hanauer, 2012], compared to a prevalence of around 1% in the general population [Picot et al, 2008]. It is, however, commonly thought that in individuals with learning disabilities, the increased prevalence of epilepsy is related to the fact that both epilepsy and learning disabilities are symptoms of a common underlying condition [Lhatoo and Sander, 2001].…”

Section: Discussionmentioning

confidence: 99%

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome

et al. 2015

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Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly affected. CLS is well known for stimulus-induced drop episodes; however, epilepsy is not commonly reported in this condition. We report on a CLS patient presenting with recurrent episodes of nonconvulsive status epilepticus (NCSE) with generalized epileptic activity, for which investigations did not find any other cause than the patient's genetic condition. This case underlines that the possibility of nonconvulsive epileptic seizures and status epilepticus should, therefore, be considered in those patients. The treatable diagnosis of NCSE may easily be overlooked, as symptoms can be unspecific.

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“…It has been found that the washing and drying behaviors, which may correspond to 'grooming', follow a distinctly cephalocaudal directionality (Young & Thiessen, 1991). In goal directed movements involving reaching for a target in humans, eye movements, head movements and arm movements were shown to appear sequentially in that order (Biguer, (Stephensen et al, 2005). Thus, it strongly suggests that the regulation of motor behavior has a cephalo-caudal directional bias and may perhaps, even be evolutionarily conserved across the order mammalia.…”

Section: Cephalo-caudal Patterns In Animal Behavior and Other Examplesmentioning

confidence: 99%

Simple cephalo-caudal patterns embedded in complex human interpersonal behavior

Manduva¹

2017

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The movement disorders of Coffin–Lowry syndrome

Cited by 34 publications

References 10 publications

Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay

Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome

Simple cephalo-caudal patterns embedded in complex human interpersonal behavior

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