Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A

Özkara, ÇİĞDEM; Gündüz, AYŞEGÜL; COŞKUN, T; Alpaslan, BENGİ; ZEYDAN, Burcu; DELIL, MEMET; MUONA, M; LEHESJOKI, AE; Kızıltan, Meral

doi:10.1684/epd.2017.0911

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A

Özkara Ç., Gündüz A., COŞKUN T., Alpaslan B. G., ZEYDAN B., DELIL S., ...Daha Fazla

EPILEPTIC DISORDERS, cilt.19, sa.2, ss.147-151, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 19 Sayı: 2
Basım Tarihi: 2017
Doi Numarası: 10.1684/epd.2017.0911
Dergi Adı: EPILEPTIC DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.147-151
Anahtar Kelimeler: neuronal ceroid lipofuscinosis, electrophysiology, clinical course, CLN6, TRANSMEMBRANE PROTEIN, DISEASE, CLN6, MUTATIONS, PIRACETAM, SEIZURES
İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Aim. Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile-and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene.