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Author/Creator Koko, Mahmoud

1. An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. (10th June 2021)

Authors:
Koko, Mahmoud; Yahia, Ashraf; Elsayed, Liena E.; Hamed, Ahlam A.; Mohammed, Inaam N.; Elseed, Maha A.; Hamad, Muddathir H. A.; Babai, Arwa M.; Siddig, Rayan A.; Abd Allah, Amal S. I.; Mohamed, Mayada; EL‐Amin, Melka; Esteves, Typhaine; Altmüller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nür...
Journal:
Annals of human genetics
Issue:
Volume 85:Number 5(2021)
Page Start:
186
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study. Issue 3 (15th January 2022)

Authors:
Koko, Mahmoud; Motelow, Joshua E.; Stanley, Kate E.; Bobbili, Dheeraj R.; Dhindsa, Ryan S.; May, Patrick
Other Names:
Alldredge Brian K. investigator.; Allen Andrew S. investigator.; Altmüller Janine investigator.; Amrom Dina investigator.; Andermann Eva investigator.; Auce Pauls investigator.; Avbersek Andreja investigator.; Baulac Stéphanie investigator.; Bautista Jocelyn F. investigator.; Becker Felicitas inv...
Journal:
Epilepsia
Issue:
Volume 63:Issue 3(2022)
Page Start:
723
Record Type:
Journal Article
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3. KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum. Issue 7 (7th June 2019)

Authors:
Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Hermann, Andreas; Cremer, Kirsten; Haberlandt, Edda; Grimmel, Mona; Alhaddad, Bader; Beck‐Woedl, Stefanie; Harrer, Merle; Karall, Daniela; Kingelhoefer, Lisa; Tzschach, Andreas; Matthies, Lars C.; Strom, Tim M.; Ringelstein, Erich Bernd; Sturm,...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 7(2019)
Page Start:
1319
Record Type:
Journal Article
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4. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Issue 23 (10th July 2021)

Authors:
Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; Mc...
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 23(2021)
Page Start:
2300
Record Type:
Journal Article
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