Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Daniel G. Calame , Isabella Herman , Reza Maroofian , Aren E. Marshall , Karina Carvalho Donis , Jawid M. Fatih , Tadahiro Mitani , Haowei Du , Christopher M. Grochowski , Sergio B. Sousa , Charul Gijavanekar , Somayeh Bakhtiari , Yoko A. Ito , Clarissa Rocca , Jill Hunter , V. Reid Sutton , Lisa T. Emrick , Kym M. Boycott , Alexander Lossos , Yakov Fellig , Eugenia Prus , Yosef Kalish , Vardiella Meiner , Manon Suerink , Claudia Ruivenkamp , Kayla Muirhead , Nebal W. Saadi , Maha S. Zaki , Arjan Bouman , Tahsin Stefan Barakat , David L. Skidmore , Matthew Osmond , Thiago Oliveira Silva , David Murphy , Ehsan Ghayoor Karimiani , Yalda Jamshidi , Asaad Ghanim Jaddoa , Homa Tajsharghi , Sheng Chih Jin , Mohammad Reza Abbaszadegan , Reza Ebrahimzadeh-Vesal , Susan Hosseini , Shahryar Alavi , Amir Bahreini , Elahe Zarean , Mohammad Mehdi Salehi , Nouriya Abbas Al-Sannaa , Giovanni Zifarelli , Peter Bauer , Simon C. Robson , Zeynep Coban-Akdemir , Lorena Travaglini , Francesco Nicita , Shalini N. Jhangiani , Richard A. Gibbs , Jennifer E. Posey , Michael C. Kruer , Kristin D. Kernohan , Jonas A. Morales Saute , Henry Houlden , Adeline Vanderver , Sarah H. Elsea , Davut Pehlivan , Dana Marafi , James R. Lupski ANNALS OF NEUROLOGY（2022）
Key words
Hereditary Spastic Paraplegia
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