PRRT2 mutations: exploring the phenotypical boundaries.
Background: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs). However it remains unknown whether PRRT2 mutation...
| Publicado en: | Journal of Neurology, Neurosurgery & Psychiatry Vol. 85; no. 4; pp. 462 - 466 |
|---|---|
| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
BMJ Publishing Group
Apr2014
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104038145&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104038145 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00223050 1Z1 jtl: Journal of Neurology, Neurosurgery & Psychiatry issn: 00223050 maglogo: N pubinfo: dt: Apr2014 vid: 85 iid: 4 pid: 8280 pub: BMJ Publishing Group artinfo: ui: 104038145 NLM24101679 2012499754 10.1136/jnnp-2013-305122 NLM24101679 104038145 ppf: 462 ppct: 4 formats: tig: atl: PRRT2 mutations: exploring the phenotypical boundaries. aug: au: Djémié, Tania Weckhuysen, Sarah Holmgren, Philip Hardies, Katia Van Dyck, Tine Hendrickx, Rik Schoonjans, An-Sofie Van Paesschen, Wim Jansen, Anna C De Meirleir, Linda Selim, Laila Abdel Moteleb Girgis, Marian Y Buyse, Gunnar Lagae, Lieven Smets, Katrien Smouts, Iris Claeys, Kristl G Van den Bergh, Vic Grisar, Thierry Blatt, Ilan sug: subj: Epilepsy Membrane Proteins Nerve Tissue Proteins Mutation Epilepsy Complications Epilepsy Diagnosis Female Learning Disorders Complications Learning Disorders Male Motor Skills Disorders Complications Motor Skills Disorders Pedigree Phenotype Female Male ab: Background: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs). However it remains unknown whether PRRT2 mutations are causal in other epilepsy syndromes. After we discovered a PRRT2 mutation in a large family with ICCA containing one individual with febrile seizures (FS) and one individual with West syndrome, we analysed PRRT2 in a heterogeneous cohort of patients with different types of infantile epilepsy.Methods: We screened a cohort of 460 patients with B(F)IC or ICCA, fever related seizures or infantile epileptic encephalopathies. All patients were tested for point mutations using direct sequencing.Results: We identified heterozygous mutations in 16 individuals: 10 familial and 6 sporadic cases. All patients were diagnosed with B(F)IC, ICCA or PD. We were not able to detect mutations in any of the other epilepsy syndromes. Several mutation carriers had learning disabilities and/or impaired fine motor skills later in life.Conclusions: PRRT2 mutations do not seem to be involved in the aetiology of FS or infantile epileptic encephalopathies. Therefore B(F)IC, ICCA and PD remain the core phenotypes associated with PRRT2 mutations. The presence of learning disabilities or neuropsychiatric problems in several mutation carriers calls for additional clinical studies addressing this developmental aspect in more detail. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|