The expanding spectrum of movement disorders in genetic epilepsies

@article{Papandreou2019TheES,
  title={The expanding spectrum of movement disorders in genetic epilepsies},
  author={Apostolos Papandreou and Federica Rachele Danti and Robert Spaull and Vincenzo Leuzzi and Amy Mctague and Manju A. Kurian},
  journal={Developmental Medicine \& Child Neurology},
  year={2019},
  volume={62}
}
An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion… 
View on Wiley
discovery.ucl.ac.uk
14 Citations
Background Citations
5
Results Citations
1

14 Citations

Citation Type

Citation Type

Paroxysmal Genetic Movement Disorders and Epilepsy
TLDR
How these distinct phenotypes were constructed from a historical perspective are discussed and how they are currently coalescing into established genetic etiologies with extensive pleiotropy are discussed, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing.
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review
TLDR
High genetic heterogeneity and low numbers of described patients are found; future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.
Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features.
Paroxysmal Movement Disorders
TLDR
An update on the genetics of PxMDs, description of P xMDs classified according to causative gene rather than clinical phenotype, highlighting key clinical features and providing an algorithm for genetic testing of PXMDs are provided.
The Genetic Relationship between Paroxysmal Movement Disorders and Epilepsy
TLDR
In this review, the main genetic disorders that results in co-occurrence of epilepsy and paroxysmal movement disorders are summarized, with a presentation of their genetic characteristics, suspected pathogenic mechanisms, and detailed descriptions of paroxymic movement disorders and seizure types.
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a…
Recent genetic advances in early-onset dystonia.
TLDR
Gene discovery for dystonic disorders proceeds rapidly, but a high proportion of cases remain undiagnosed, and it is no longer realistic for clinicians to aim for diagnosis to the level of predicting genotype from phenotype in all cases, but rational and adaptive use of available genetic tests can expedite diagnosis.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy
TLDR
Five children from four families with biallelic pathogenic variants in UBA5 presented with global developmental delay, epilepsy, axial hypotonia, appendicular hypertonia, and a movement disorder, including dystonia in four, with evidence for some limited genotype–phenotype correlation.
Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes
TLDR
The advent of next‐generation sequencing (NGS) has facilitated an exponential increase in disease‐causing genes and genotype–phenotype correlations, and the “one‐phenotype‐many‐genes” paradigm has become prominent.
Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature
TLDR
It is proposed that the appearance of epilepsy in r(18) patients may be associated with the abnormality of chromosome karyotypes and further studies are warranted to confirm this.
...
1
2
...

References

SHOWING 1-10 OF 193 REFERENCES
The progressive myoclonic epilepsies
TLDR
The phenotypes of progressive myoclonic epilepsies are discussed and the relevant specific investigations to identify the underlying cause are summarised.
Emerging Monogenic Complex Hyperkinetic Disorders
TLDR
The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathy, developmental delay/intellectual disability, and hyperkinetic movement disorders.
The genetic landscape of the epileptic encephalopathies of infancy and childhood
Phenotypes, genotypes, and the management of paroxysmal movement disorders
TLDR
Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia, but it can be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
TLDR
This work investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions, RTT andEE.
GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders
TLDR
WES analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRin1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations.
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
TLDR
A female patient who presented with intractable epileptic seizures, profound developmental delay since early infancy, and hyperkinetic movements with hand stereotypies is reported, demonstrating that SCN1A mutations may cause movement disorders as an atypical phenotype.
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
TLDR
This review discusses those disorders in which epilepsy is a dominant feature and presents an approach to the clinical recognition, diagnosis, and management of these disorders, with a greater focus on primarily treatable conditions.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
TLDR
SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers.
...
1
2
3
4
5
...