CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?

Jiang, Yongli; Yuan, Fang; Yang, Ying; Sun, Xiaolong; Song, Lei; Jiang, Wen

doi:10.1016/j.seizure.2018.02.005

Cited by 28 publications

(20 citation statements)

References 13 publications

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“…23,35 They are often associated with epilepsy, manifesting in patients with mutations in genes encoding synaptic proteins/receptors (PRRT2, CHRNA4), ion channels (KCNA1, KCNMA1, SCN8A, CACNA1A), and transporters (SLC2A1, SLC16A2, ATP1A2, ATP1A3). 167 Additionally, epilepsy occurs in tandem with paroxysmal non-kinesigenic dyskinesia in CACNA1A 168 and KCNMA1-related disease, [169][170][171] while paroxysmal exercise-induced dyskinesia is often described in cases of SLC2A1-related glucose transporter type 1 protein deficiency, 23 and more recently reported in patients with TBC1D24 mutations. In the context of epilepsy, paroxysmal kinesigenic dyskinesia is reported in patients harbouring mutations in PRRT2, 163,164 SCN8A, 31,33 SLC16A2, 165,166 and CHRNA4.…”

Section: Paroxysmal Dyskinesias and Epilepsymentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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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. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

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Section: Paroxysmal Dyskinesias and Epilepsymentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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“…Recently, DEPDC5 S10 and CHRNA4 49 mutations have been associated with the syndrome of PKD plus epilepsy in single families. However, these two genes are also a cause of ADNFLE50 and it remains to be seen whether these episodes of paroxysmal dystonia are epileptic in nature or not.…”

Section: Disorders Presenting With Pxdmentioning

confidence: 99%

Unravelling of the paroxysmal dyskinesias

Erro

Bhatia

2018

J Neurol Neurosurg Psychiatry

108

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Paroxysmal dyskinesias (PxD) refer to a rare group of clinically and genetically heterogeneous disorders presenting with recurrent attacks of abnormal movements, typically dystonia, chorea or a combination thereof, without loss of consciousness. Classically, PxD have been categorised according to their triggers and duration of the attacks, but increasing evidence suggests that there is a certain degree of clinical and genetic overlap and challenges the concept that one phenotype is attributable to one single aetiology. Here we review the increasing spectrum of genetic conditions, as well as of other non-genetic disorders, that might present with PxD, provide criteria for case definition and propose a diagnostic workup to reach a definitive diagnosis, on which treatment is heavily dependent.

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“…In terms of co-occurrence with epilepsy, patients with mutations in PRRT2 [9,12], SCN8A [13,14], SLC16A2 [15,16], and CHR-NA4 [17] have been reported in PKD (Fig. 1).…”

Section: Clinical Overviewmentioning

confidence: 99%

“…Recently, Jiang et al [17] found that co-occurrence of genetic epilepsy with febrile seizures plus and PKD have CHRNA4 mutations in PRRT2-negative families. Different seizure types were observed, including recurrent febrile seizures, which occurred between the ages of 3 and 7 years, afebrile seizures, including myoclonic seizures, which occurred between the ages of 6 and 11 years, and generalized tonic-clonic seizures, which occurred after the age of 14 years [17]. Symptoms of choreoathetosis and dystonia were mostly triggered by sudden movements and only occurred during daytime [17].…”

Section: Chrna4mentioning

confidence: 99%

“…Different seizure types were observed, including recurrent febrile seizures, which occurred between the ages of 3 and 7 years, afebrile seizures, including myoclonic seizures, which occurred between the ages of 6 and 11 years, and generalized tonic-clonic seizures, which occurred after the age of 14 years [17]. Symptoms of choreoathetosis and dystonia were mostly triggered by sudden movements and only occurred during daytime [17]. The attacks usually lasted for less than 30 seconds and did not cause any loss of consciousness and with oxcarbazepine monotherapy, they were markedly controlled [17].…”

Section: Chrna4mentioning

confidence: 99%

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The Genetic Relationship between Paroxysmal Movement Disorders and Epilepsy

Ahn

2020

Ann Child Neurol

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Movement disorders often arise from the basal ganglia nuclei or when their connections malfunction, resulting in hypokinetic, hyperkinetic, or dystonic disorders [1]. A seizure is the result of abnormally excessive or synchronous neuronal activity in the brain, defined as "momentary arising of signs and/or symptoms, " whereas epilepsy is characterized by one or more seizures with a relatively high recurrence risk [2]. Alth ough they are caused by a number of different conditions, both movement disorders and seizures present abnormal movements with coinciding phenomenology [3]. Both movement disorders and epilepsy occur in many genetic disorders ranging from inborn errors of metabolism to developmental and epileptic encephalopathies, epilepsy syndrome with stereotyp-Seizures and movement disorders both involve abnormal movements and are often difficult to distinguish due to their overlapping phenomenology and possible etiological commonalities. Paroxysmal movement disorders, which include three paroxysmal dyskinesia syndromes (paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia), hemiplegic migraine, and episodic ataxia, are important examples of conditions where movement disorders and seizures overlap. Recently, many articles describing genes associated with paroxysmal movement disorders and epilepsy have been published, providing much information about their molecular pathology. In this review, we summarize the main genetic disorders that results in co-occurrence of epilepsy and paroxysmal movement disorders, with a presentation of their genetic characteristics, suspected pathogenic mechanisms, and detailed descriptions of paroxysmal movement disorders and seizure types.

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CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?

Abstract: CHRNA4 may be a novel gene causing of PKD and GEFS+. Our study extends the genotypic-phenotypic spectrum of combined epileptic and dyskinetic syndromes, and provides a genetic linkage between PKD and GEFS+.

Cited by 28 publications

References 13 publications

The expanding spectrum of movement disorders in genetic epilepsies

The expanding spectrum of movement disorders in genetic epilepsies

Unravelling of the paroxysmal dyskinesias

The Genetic Relationship between Paroxysmal Movement Disorders and Epilepsy

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