TY  - GEN
AU  - Borgatti,R
AU  - Zucca,C
AU  - Cavallini,A
AU  - Ferrario,M
AU  - Panzeri,C
AU  - Castaldo,P
AU  - Soldovieri,M V
AU  - Baschirotto,C
AU  - Bresolin,N
AU  - Dalla Bernardina,B
AU  - Taglialatela,M
AU  - Bassi,M T
TI  - A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation
SN  - 1526-632X
PY  - 2004///1221
KW  - Adult
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Animals
KW  - Anticonvulsants
KW  - pharmacology
KW  - CHO Cells
KW  - Cricetinae
KW  - Cricetulus
KW  - Drug Resistance
KW  - genetics
KW  - Epilepsies, Partial
KW  - drug therapy
KW  - Epilepsy, Benign Neonatal
KW  - Female
KW  - Humans
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Ion Channel Gating
KW  - Ion Transport
KW  - KCNQ2 Potassium Channel
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Potassium Channels, Voltage-Gated
KW  - chemistry
KW  - Protein Conformation
KW  - Protein Subunits
KW  - Quadriplegia
KW  - Structure-Activity Relationship
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000132979.08394.6d
ER  -