Ceulemans, Berten

De Jonghe, Peter

Dj\ue9mi\ue9, Tania

et al.

Hardies, Katia

Hendrickx, Rik

Holmgren, Philip

Smets, Katrien

Smouts, Iris

Suls, Arvid

Van Dyck, Tine

Weckhuysen, Sarah

Abstract: Background Mutations in the proline-rich transmembrane protein2 (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. ConclusionsPRRT2 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

Schoonjans, An-Sofie

Van Paesschen, Wim

Jansen, Anna

De Meirleir, Linda

Selim, Laila Abdel Moteleb

Girgis, Marian Y.

Buyse, Gunnar

Lagae, Lieven

Claeys, Kristl G.

Van den Bergh, Vic

Grisar, Thierry

Blatt, Ilan

Shorer, Zamir

Roelens, Filip

Afawi, Zaid

Helbig, Ingo

Institutional Repository Universiteit Antwerpen

PRRT2 mutations : exploring the phenotypical boundaries

PRRT2 mutations : exploring the phenotypical boundaries

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Institutional Repository Universiteit Antwerpen