Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

Maini, Ilenia; Iodice, Alessandro; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Bertani, Gianna; Frattini, Daniele; Fusco, Carlo

doi:10.1016/j.ejpn.2016.01.010

Cited by 23 publications

(25 citation statements)

References 5 publications

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“…The recurrent truncating variant c.649dupC (p.R217fs) in the PRRT2 gene has been reported to be a pathogenic variant in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy 20,21 and was identified in two patients in our group, both of them were inherited from the mother or father. Both patients had a seizure onset before they reached 1 year old, exhibited normal psychomotor development, and had EEGs showing no evidence of severe epileptic syndromes of infancy.…”

Section: Expansion Of the Phenotypic Spectrummentioning

confidence: 65%

Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients

et al. 2018

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Epilepsy is a common and genetically heterogeneous disorder among children. Advances in next-generation sequencing have revealed that numerous epilepsy genes, helped us improve the understanding of mechanisms underlying epileptogenesis, and guided the development of treatments. We identified 39 candidate variants in 21 genes, including 37 that were pathogenic or likely pathogenic variants according to the American College of Medical Genetics and Genomics scoring system and two variants of uncertain significance that were considered causative after they were associated with clinical characteristics. Thirty were de novo variants (76.9%), and 20 variants had not previously been reported (51.3%). We obtained a diagnosis in 39 of the 141 probands (27.7%). The most frequently mutated gene was SCN1A; KCNQ2, KCNT1, PCDH19, STXBP1, SCN2A, TSC2, and PRRT2 were mutated in more than one individual; ANKRD11, CDKL5, DCX, DEPDC5, GABRB3, GRIN2A, IQSEC2, KCNA2, KCNB1, KCNJ6, TSC1, SCN9A, and SCN1B were mutated in a single individual. In addition, we detected a nonsense variant in a candidate gene KCND1 and considered it as a new candidate epilepsy gene, which needed further functional study. Consequently, large number of unreported variants were detected, diverse phenotypes were associated with known epilepsy genes. Changes in clinical management beyond genetic counseling were suggested.

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Section: Expansion Of the Phenotypic Spectrummentioning

confidence: 65%

Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients

et al. 2018

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“…Diagnostic workups, including metabolic and neuroimaging studies, are unremarkable. PPRT2 mutation was also found in BFIE and heterogeneous phenotypes including FS and SUDEP (Labate et al, 2013) and benign myoclonus of early infancy (Maini et al, 2016). BIE can be sporadic (Watanabe et al, 1993) or familial, showing autosomal dominant (AD) mode of inheritance; the latter is known as "benign familial infantile epilepsy/seizures" (BFIE) (Vigevano et al, 1992).…”

Section: Benign Infantile Epilepsy (Bie)mentioning

confidence: 99%

The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2)

Koutroumanidis

Arzimanoglou

Caraballo

et al. 2017

Epileptic Disorders

105

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The concept of epilepsy syndromes, introduced in 1989, was defined as “clusters of signs and symptoms customarily occurring together”. Definition of epilepsy syndromes based on electro‐clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro‐clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures. The 2017 ILAE position paper on Classification of the Epilepsies recognized that “as a critical tool for the practicing clinician, epilepsy classification must be relevant and dynamic to changes in thinking”. The concept of “epilepsy syndromes” evolved, incorporating issues related to aetiologies and comorbidities. A comprehensive update (and revision where necessary) of the EEG diagnostic criteria in the light of the 2017 revised terminology and concepts was deemed necessary. Part 2 covers the neonatal and paediatric syndromes in accordance with the age of onset. [Published with educational EEG plates at http://www.epilepticdisorders.com].

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“…Mutations in PRRT2, KCNA1, SCN8A, and POC1B have been associated with PKD or PKD/BFIS, among which PRRT2 is the major causative gene of PKD, BFIS, and combined PKD and BFIS (known as infantile convulsions and choreoathetosis) . More than 90 mutations in PRRT2 have been identified thus far, and seizure phenotypes such as febrile seizures and epilepsy have also been reported in PRRT2 mutation carriers …”

Section: Introductionmentioning

confidence: 99%

“…9 More than 90 mutations in PRRT2 have been identified thus far, 10 and seizure phenotypes such as febrile seizures and epilepsy have also been reported in PRRT2 mutation carriers. 9,[11][12][13][14] The PRRT2 protein consists of a large proline-rich domain located in the cytoplasm, a helix-loop-helix (HLH) domain embedded in the inner surface of the plasma membrane, and a transmembrane domain that spans the plasma membrane. 15 PRRT2 is a key component of the calciumdependent neurotransmitter release machinery.…”

Section: Introductionmentioning

confidence: 99%

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B

Feng

Deng

et al. 2018

Epilepsia

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Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

Cited by 23 publications

References 5 publications

Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients

Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients

The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2)

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B

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