The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures

Roest, Aalt van; Vel, Anouk Van de; Lederer, Damien; Ceulemans, Berten

doi:10.1016/j.ejpn.2019.12.003

Cited by 7 publications

(9 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is consistent with the findings described by van Roest et al. 16 in 2019. In our study, the median age at BFIE onset was 5 months; seizures ceased after 1–2 months.…”

Section: Discussionsupporting

confidence: 94%

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

Deng

Yao

et al. 2022

Pediatric Investigation

View full text Add to dashboard Cite

Importance Infantile convulsions and choreoathetosis (ICCA) is a rare neurological disorder. Many affected patients are either misdiagnosed or prescribed multiple antiepileptic drugs. Objective To explore therapeutic drug treatments and dosages for ICCA in children. Methods Detailed clinical features (e.g., past medical history and family history), genetic features, and treatment outcomes were collected from the records of six patients with ICCA. Results Mean age at paroxysmal kinesigenic dyskinesia (PKD) onset was 8 years 8 months (range, 3–12 years); the clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. All patients had infantile convulsions at less than 1 year of age, and the mean onset age was 5.5 months (range, 4–7 months). Two patients had a family history of ICCA, PKD, or benign familial infantile epilepsy. Whole exome sequencing identified the c.649–650insC mutation in PRRT2 in six patients; three mutations were inherited and three were de novo. All patients were prescribed low‐dose carbamazepine and showed dramatic improvement with the complete disappearance of dyskinetic episodes after 3 days. They attended follow‐up for 5–17 months and were attack‐free until the final follow‐up. Interpretation PRRT2 mutations are the primary cause of ICCA. Low‐dose carbamazepine monotherapy is effective and well‐tolerated in children.

show abstract

“…This is consistent with the findings described by van Roest et al. 16 in 2019. In our study, the median age at BFIE onset was 5 months; seizures ceased after 1–2 months.…”

Section: Discussionsupporting

confidence: 94%

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

Deng

Yao

et al. 2022

Pediatric Investigation

View full text Add to dashboard Cite

show abstract

“…PRRT2 was the most common single-gene epilepsy (1 per 9970) in a large prospective National epidemiological cohort study showing that presentation before the age of 6 months with afebrile focal seizures were significantly associated with a genetic diagnosis [13].…”

Section: Discussionmentioning

confidence: 99%

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Balagura

Riva

Marchese

et al. 2020

European Journal of Paediatric Neurology

View full text Add to dashboard Cite

“…BFIE is an infantile cluster epilepsy that generally has a complete recovery [67]. Most BFIE cases are caused by PRRT2 mutations, while mutations in other genes, including SCN2A, SCN8A, and KCNQ2, can also contribute.…”

Section: Special Populations a Patients With Bfiementioning

confidence: 99%

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Cao¹,

Huang²,

Wang³

et al. 2021

Transl Neurodegener

View full text Add to dashboard Cite

Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.

show abstract

The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures

Cited by 7 publications

References 28 publications

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Contact Info

Product

Resources

About