How can advances in epilepsy genetics lead to better treatments and cures?

Advances in Experimental Medicine and Biology

Volumn 813, Issue , 2014, Pages 309-317

  Guerrini, Renzo ^a   Noebels, Jeffrey ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Comorbidity; Complexity; Gene testing; Modifier; Mutation; Phenotype

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; PHENYTOIN; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; 4 AMINOBUTYRIC ACID A RECEPTOR; GLUCOSE TRANSPORTER 1; NICOTINE PATCH; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.1;

ABSENCE; ARTICLE; COMORBIDITY; DRUG PENETRATION; DRUG RESISTANCE; EPILEPSY; EPILEPTOGENESIS; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENETIC ENGINEERING; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEREDITY; HUMAN; KETOGENIC DIET; MEDICAL GENETICS; NONHUMAN; NONSENSE MUTATION; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SINGLE NUCLEOTIDE POLYMORPHISM; SUPPLEMENTATION; TONIC CLONIC SEIZURE; ALDH7A1 GENE; ALLELE; AUTISM; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; CLCN1 GENE; COPY NUMBER VARIATION; GAIN OF FUNCTION MUTATION; GENE; GENE LOCUS; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETICS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; INTELLECTUAL IMPAIRMENT; KCNQ2 GENE; LOSS OF FUNCTION MUTATION; MOSAICISM; NERVE CELL EXCITABILITY; NERVE CELL PLASTICITY; PROTEIN DEFICIENCY; PRRT2 GENE; PYRIDOXINE DEPENDENT EPILEPSY; SCN1A GENE; SEIZURE; SLC2A1 GENE; SUDDEN DEATH;

EID: 84959196857     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-94-17-8914-1_25     Document Type: Article

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