Disease #00182 (BFNS1 (seizures, benign neonatal, type 1 (BFNS-1)), OMIM:121200)

Official abbreviation BFNS1
Name seizures, benign neonatal, type 1 (BFNS-1)
OMIM ID 121200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 1 gene KCNQ2
Associated tissues -
Disease features -
Remarks -


Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00002647 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002648 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002649 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002650 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002651 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002652 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002653 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002654 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002655 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002656 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002657 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002658 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002659 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002660 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002661 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00002662 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - - KCNQ2 1 1 Gaetan Lesca
00016321 - - - F - Italy - - 0 - - BFNS1 Neonatal generalized tonic-clonic seizures not responsive to any therapy. Seizures ceased spontaneously at the 25th day of life. KCNQ2, MAGI2 KCNQ2, MAGI2 2 1 Lab Zuffardi
00054795 - - - - - - - - 0 - - BFNS1 - KCNQ2 KCNQ2 1 4 NeuroMeGen
00054830 - - - - - - - - 0 - - BFNS1 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054831 - - - - - - - - 0 - - BFNS1 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054832 - - - - - - - - 0 - - BFNS1 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00081048 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - BFNS1 Seizures, benign neonatal, 1 (OMIM:121200) KCNQ2 KCNQ2 1 1 Daniel Trujillano
00306224 130 - - M - China - - - - - BFNS1 - KCNQ2 KCNQ2 1 1 Sha Hong
00317981 171279 - - M ? Syria - - 0 - - BFNS1 Seizure, Neonatal seizure KCNQ2 KCNQ2 1 1 Andreas Laner
00330834 175044 - - M ? Germany - - 0 - - BFNS1 Generalized-onset seizure, Complex, pronounced epilepsy, generalised, therapy with VPA and LMT in high doses, now seizure-free for 3 months KCNQ2 KCNQ2 1 1 Andreas Laner
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