Disease #00343 (EPD (epilepsy, pyridoxine-dependent (EPD)), OMIM:266100)

Official abbreviation EPD
Name epilepsy, pyridoxine-dependent (EPD)
OMIM ID 266100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 190
Phenotype entries for this disease 191
Associated with 1 gene ALDH7A1
Associated tissues -
Disease features -
Remarks -


Individuals

190 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00016318 - - - F no Italy - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Lab Zuffardi
00016319 - - - M ? Italy - - 0 - - EPD - GPR98 GPR98 1 1 Lab Zuffardi
00079991 - - - F no Syria Caucasian - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Nicolai Kohlschmidt
00080902 - Trujillano et al., submitted unaffected parents - - - - - 0 - - EPD Epilepsy, pyridoxine-dependent (OMIM:266100) ALDH7A1 ALDH7A1 1 1 Daniel Trujillano
00080984 - Trujillano et al., submitted unaffected parents - - - - - 0 - - EPD Epilepsy, pyridoxine-dependent (OMIM:266100) ALDH7A1 ALDH7A1 1 1 Daniel Trujillano
00244877 PDE-1 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244878 PDE-2 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244879 PDE-3 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244880 PDE-4 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244881 PDE-5 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244882 PDE-6 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244883 PDE-7 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244884 PDE-8 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244885 PDE-9 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244886 PDE-10 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244887 PDE-11 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244888 PDE-12 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244889 PDE-13 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244890 PDE-14 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244891 PDE-15 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244892 PDE-16 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244893 PDE-17 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244894 PDE-18 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244895 PDE-19 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244896 PDE-20 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244897 PDE-21 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244898 PDE-22 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244899 PDE-23 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244900 PDE-24 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244901 PDE-25 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244902 PDE-26 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244903 PDE-27 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244904 PDE-28 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244905 PDE-29 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244906 PDE-30 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244907 PDE-31 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244908 PDE-32 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244909 PDE-33 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244910 PDE-34 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244911 PDE-35 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244912 PDE-36 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244913 PDE-37 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244914 PDE-38 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244915 PDE-39 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244916 PDE-40 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244917 PDE-41 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244918 PDE-42 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244919 PDE-43 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244920 PDE-44 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244921 PDE-45 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244922 PDE-46 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244923 PDE-47 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244924 PDE-48 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244925 PDE-49 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244926 PDE-50 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244927 PDE-51 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244928 PDE-52 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244929 PDE-53 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244930 PDE-54 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244931 PDE-55 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244932 PDE-56 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244933 PDE-57 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244934 PDE-58 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244935 PDE-59 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244936 PDE-60 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244937 PDE-61 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244938 PDE-62 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244939 PDE-63 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244940 PDE-64 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244941 PDE-65 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244942 PDE-66 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244943 PDE-67 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244944 PDE-68 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244945 PDE-69 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244946 PDE-70 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244947 PDE-71 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244948 PDE-72 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244949 PDE-73 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244950 PDE-74 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244951 PDE-75 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244952 PDE-76 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244953 PDE-77 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244954 PDE-78 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244955 PDE-79 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244956 PDE-80 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244957 PDE-81 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244958 PDE-82 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244959 PDE-83 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244960 PDE-84 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244961 PDE-85 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244962 PDE-86 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244963 PDE-87 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244964 PDE-88 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244965 PDE-89 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244966 PDE-90 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244967 PDE-91 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244968 PDE-92 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
00244969 PDE-93 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244970 PDE-94 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 2 1 Curtis Coughlin II
00244971 PDE-95 PubMed: Coughlin 2019 - - - - - - 0 - - EPD - ALDH7A1 ALDH7A1 1 1 Curtis Coughlin II
Legend   How to query   « First ‹ Prev     1 2     Next › Last »