Phenotypic variability in cases with CACNA1A mutation
• Instances of intrafamilial variability in CACNA1A variants have been identified, with differing clinical manifestations exhibited by affected family members. • Incomplete penetrance is a phenomenon that may occur, as neurodevelopmental or neuropsychiatric findings are not exhibited by some patients with CACNA1A variants.
Authors
- Pınar Gençpınar (ORCID: https://orcid.org/0000-0002-3223-5408)
- Atilla Ersen (ORCID: https://orcid.org/0000-0002-2404-170X)
- Uluç Yiş
- Müge Ayanoğlu (ORCID: https://orcid.org/0000-0002-0556-1435)
- Nihal Olgaç Dündar (ORCID: https://orcid.org/0000-0002-5902-3501)
- Bülent Kara (ORCID: https://orcid.org/0000-0003-3780-6596)
- Şeyda Beşen (ORCID: https://orcid.org/0000-0002-6276-8133)
- Yaşar Bekir Kutbay (ORCID: https://orcid.org/0000-0002-9006-5072)
- İlknur Erol (ORCID: https://orcid.org/0000-0002-3530-0463)
- Serkan Kırık (ORCID: https://orcid.org/0000-0002-8658-2448)
- Sevim Türay (ORCID: https://orcid.org/0000-0001-6002-052X)
- Berk Özyılmaz (ORCID: https://orcid.org/0000-0003-2654-3698)
- Ayşegül Danış (ORCID: https://orcid.org/0000-0003-0962-2116)
- Arzu Ekici (ORCID: https://orcid.org/0000-0001-7219-3145)
- Şenay Haspolat (ORCID: https://orcid.org/0000-0003-3596-1816)
- Esra Sarıgeçili (ORCID: https://orcid.org/0000-0001-8630-4950)
- Ayşe Tosun (ORCID: https://orcid.org/0000-0003-4261-1021)
- Mesut Güngör (ORCID: https://orcid.org/0000-0003-1594-0006)
- Sema Bozkaya Yılmaz (ORCID: https://orcid.org/0000-0002-5389-5616)
- Fatma Hancı (ORCID: https://orcid.org/0000-0002-1019-9207)
- Semra Hız Kurul (ORCID: https://orcid.org/0000-0002-8020-4884)
- Hülya Kayılıoğlu (ORCID: https://orcid.org/0000-0001-7335-1985)
- Nargiz Aliyeva (ORCID: https://orcid.org/0000-0003-3627-038X)
- Osman Kipoglu
- Gamze Sarikaya-Uzan
Institutions
- Izmir University (TR)
- Selçuk University (TR)
- Fırat University (TR)
- Başkent University (TR)
- Bursa Technical University (TR)
- Dokuz Eylül University (TR)
- Akdeniz University (TR)
- Izmir Kâtip Çelebi University (TR)
- Şanlıurfa Mehmet Akif İnan Eğitim ve Araştırma Hastanesi (TR)
- S.B.Ü. Bursa Yüksek İhtisas Eğitim ve Araştırma Hastanesi (TR)
- Kocaeli Üniversitesi (TR)
- Düzce Üniversitesi (TR)
- Adnan Menderes University (TR)
- Bolu Abant İzzet Baysal University (TR)
- Muğla University (TR)
Publication Details
- Journal
- European Journal of Pediatrics
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1007/s00431-025-06062-3
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63