Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

Yang, Xiaoling; Zhang, Yuehua; Xu, Xiaojing; Wang, Shuang; Yang, Zhixian; Wu, Ye; Liu, Xiaoyan; Wu, Xiru

doi:10.1186/1471-2377-13-209

Cited by 15 publications

(11 citation statements)

References 46 publications

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“…The mutation c.649delC was found in 6 families. In total 19 of the 42 families with PRRT2 mutation were described previously [ 13 ]. The mutations c.560dupT[p.Gln188Alafs*4] and c.679C>T[p.Arg227*] are novel.…”

Section: Resultsmentioning

confidence: 99%

“…Mutation screening of PRRT2 was performed by using the polymerase chain reaction (PCR) and Sanger sequencing. The method has been described in our previous study [ 13 ]. Mutation found in a proband was examined for co-segregation in other family members.…”

Section: Methodsmentioning

confidence: 99%

“…The method has been described in our previous study [13]. Mutation found in a proband was examined for cosegregation in other family members.…”

Section: Prrt2 Analysismentioning

confidence: 99%

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Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

et al. 2017

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Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Genetic testing led to the identification of gene mutations in 60 families (60 out of 79, 75.9%). A total of 42 families had PRRT2 mutations, 9 had KCNQ2 mutations, 8 had SCN2A mutations, and 1 had a GABRA6 mutation. In total three of four BFNE families were detected with KCNQ2 mutations. Mutations were detected in all BFNIE families, including 3 KCNQ2 mutations, 3 SCN2A mutations, and 1 PRRT2 mutation. Gene mutations were identified in 50 out of 68 BFIE families (73.5%), including 41 PRRT2 mutations (41 out of 68, 60.3%), 5 SCN2A mutations, 3 KCNQ2 mutations, and 1 GABRA6 mutation. Our results confirmed that mutations in KCNQ2, SCN2A, and PRRT2 are major genetic causes of benign familial epilepsy in the first year of life in the Chinese population. KCNQ2 is the major gene related to BFNE. PRRT2 is the main gene responsible for BFIE.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

et al. 2017

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“…Most cases are associated with variants in the proline-rich transmembrane protein 2 ( PRRT2 ) gene located at 16p11.2 [ 21 , 22 ]. PRRT2 accounts for up to 70% of BFIE families [ 23 , 24 ]. This gene encodes a membrane protein that interacts with the presynaptic protein synaptosomal-associated protein 25 (SNAP-25), which is involved in releasing neurotransmitters from synaptic vesicles [ 25 ].…”

Section: Benign and Self-limited (Familial) Epilepsy Syndromes In Infancymentioning

confidence: 99%

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy

Bayat

Rubboli

et al. 2021

Genes

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The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs). Genetic heterogeneity is seen in many epilepsy syndromes such as West syndrome and epilepsy of infancy with migrating focal seizures (EIMFS), indicating that two or more genetic loci produce the same or similar phenotypes. At the same time, some genes such as SCN2A can be associated with a wide range of epilepsy syndromes ranging from self-limited familial neonatal epilepsy at the mild end to Ohtahara syndrome, EIFMS, West syndrome, Lennox–Gastaut syndrome, or unclassifiable DEEs at the severe end of the spectrum. The aim of this study was to review the clinical and genetic heterogeneity associated with epilepsy syndromes starting in the first year of life including: Self-limited familial neonatal, neonatal-infantile or infantile epilepsies, genetic epilepsy with febrile seizures plus spectrum, myoclonic epilepsy in infancy, Ohtahara syndrome, early myoclonic encephalopathy, West syndrome, Dravet syndrome, EIMFS, and unclassifiable DEEs. We also elaborate on the advantages and pitfalls of genetic testing in such conditions. Finally, we describe how a genetic diagnosis can potentially enable precision therapy in monogenic epilepsies and emphasize that early genetic testing is a cornerstone for such therapeutic strategies.

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“…Most of the pathological mutations in the PRRT2 gene discovered cause truncation of the protein, leading to loss of function. Among mutations in PRRT2 , c.649dupC has been shown to be a mutation hotspot recently [ 9 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. Some studies on PRRT2 mutations in a small number of atypical benign familial and infantile epilepsies [ 9 , 14 , 15 ] provided evidence of the association between febrile seizures or childhood absence seizures and PRRT2 mutations; however, the presence of PRRT2 mutations in a broader spectrum of epileptic phenotypes has not been investigated clearly.…”

Section: Introductionmentioning

confidence: 99%

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

Zhang

et al. 2014

IJMS

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Previous studies reported that the proline-rich transmembrane protein 2 (PRRT2) gene was identified to be related to paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with PKD, PKD with migraine and benign familial infantile epilepsy (BFIE). The present study explores whether the PRRT2 mutation is a potential cause of febrile seizures, including febrile seizures plus (FS+), generalized epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS); thus, it may provide a new drug target for personalized medicine for febrile seizure patients. We screened PRRT2 exons in a cohort of 136 epileptic patients with febrile seizures, including FS+, GEFS+ and DS. PRRT2 genetic mutations were identified in 25 out of 136 (18.4%) febrile seizures in epileptic patients. Five loss-of-function and coding missense mutations were identified: c.649delC (p.R217Efs*12), c.649_650insC (p.R217Pfs*8), c.412C>G (p.Pro138Ala), c.439G>C (p.Asp147His) and c.623C>A (p.Ser208Tyr). PRRT2 variants were probably involved in the etiology of febrile seizures in epileptic patients.

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Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

Cited by 15 publications

References 46 publications

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

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