A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

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Atıf İçin Kopyala

Türkdoğan D., Turkyilmaz A., Gormez Z., Sager G., Ekinci G.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, cilt.66, ss.12-14, 2019 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 66
• Basım Tarihi: 2019
• Doi Numarası: 10.1016/j.seizure.2019.01.010
• Dergi Adı: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.12-14
• Marmara Üniversitesi Adresli: Evet

Özet

promoting

the differentiation and transition of radial glial cells to basal

progenitors and neurons [1]. DOCK7 also regulates tangential neuroblast

migration in the postnatal mouse forebrain [2].

Recently, a new phenotype of early infantile epileptic encephalopathies

(EIEE23, MIM: 615859) was reported in 3 girls from 2

families with 4 different compound heterozygous truncating mutations

in DOCK7 [3]. Here, we report a boy with infantile onset well-controlled

non-encephalopathic epilepsy and severe neurodevelopmental

delay associated with a novel homozygous truncating mutation in

DOCK7.