TY  - GEN
AU  - Plecko,Barbara
AU  - Zweier,Markus
AU  - Begemann,Anaïs
AU  - Mathis,Deborah
AU  - Schmitt,Bernhard
AU  - Striano,Pasquale
AU  - Baethmann,Martina
AU  - Vari,Maria Stella
AU  - Beccaria,Francesca
AU  - Zara,Federico
AU  - Crowther,Lisa M
AU  - Joset,Pascal
AU  - Sticht,Heinrich
AU  - Papuc,Sorina Mihaela
AU  - Rauch,Anita
TI  - Confirmation of mutations in 
SN  - 1468-6244
PY  - 2018///0703
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Electroencephalography
KW  - Epilepsy
KW  - diagnosis
KW  - Female
KW  - Gene Frequency
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Proteins
KW  - genetics
KW  - Pyridoxine
KW  - therapeutic use
KW  - Vitamin B 6
KW  - blood
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1136/jmedgenet-2017-104521
ER  -