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Background: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent episodes of movement-induced motor attacks. PKD patients may have concomitant epilepsy. Differentiation between the two disorders and effective control of both diseases remain challenging.
Case Presentation: We present a Chinese girl with typical manifestations of PKD, who also suffered from generalized tonic-clonic seizure attacks at the same time. Genetic testing confirmed a mutation (c.649dupC). Oxcarbazepine was initially used, but withdrawn due to a hypersensitivity reaction. Levetiracetam was initiated afterwards, which was effective for seizures but failed to control her PKD symptoms. The addition of lacosamide (LCM) completely controlled her PKD symptoms.
Conclusion: This is the first case reporting the effectiveness of LCM for concomitant PKD and epilepsy. Our case proposes a novel alternative for such patients who are resistant or cannot tolerate conventional anti-sodium antiepileptics.
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http://dx.doi.org/10.3389/fneur.2022.826897 | DOI Listing |
Parkinsonism Relat Disord
August 2025
Neurology Department, Coimbra University Hospital, Coimbra Local Health Unit, Portugal; Inherited Metabolic Disease Reference Center / MetabERN, Coimbra University Hospital, Coimbra Local Health Unit, Portugal.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a disorder caused by variants in the SLC2A1 gene. Clinical features are heterogeneous, from the classic presentation to milder later-onset phenotypes. We describe the case of a male patient with adult-onset paroxysmal dyskinesia in a mild phenotype of GLUT1DS (NM_006516.
View Article and Find Full Text PDFParkinsonism Relat Disord
August 2025
Parkinson's Disease and Movement Disorders Clinic, Bangalore, India.
The pathogenic variants of TMEM151A are known to be the genetic cause for Paroxysmal Kinesigenic Dyskinesia apart from PRRT2 variants. Through whole exome sequencing, we identified a known variant (c.368G > C; p.
View Article and Find Full Text PDFCureus
July 2025
Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, CHN.
16p11.2 deletion syndrome is a group disorder associated with intellectual impairment, developmental delay, and autism spectrum disorder (ASD). Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an extremely rare condition.
View Article and Find Full Text PDFEur J Case Rep Intern Med
June 2025
Department of General Medicine, Chiba University Hospital, Chiba, Japan.
Unlabelled: An adolescent male in his teens had recurrent episodes of transient left lower limb weakness, persisting for three years. These episodes were consistently triggered by specific movements, such as postural changes or movement initiation, occurring multiple times per day. The patient adapted his behaviour to avoid triggering symptoms.
View Article and Find Full Text PDFNeurol India
July 2025
Department of Pediatrics, Division of Pediatric Neurology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Background: Paroxysmal kinesigenic dyskinesia, though has world-wide distribution, is more common in persons of Asian lineage. There are no large case series of this entity from India.
Objectives: To describe clinical characteristics of paroxysmal kinesigenic dyskinesia from India.