The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients

Molecular Diagnosis and Therapy

Volumn 21, Issue 4, 2017, Pages 357-373

  Mei, Davide ^a   Parrini, Elena ^a   Marini, Carla ^a   Guerrini, Renzo ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; GLUCOSE TRANSPORTER 1; MAMMALIAN TARGET OF RAPAMYCIN; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNT1; PROTOCADHERIN 19; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; UNCLASSIFIED DRUG; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; ANTICONVULSIVE AGENT; ION CHANNEL; NEUROTRANSMITTER RECEPTOR;

DISEASE SEVERITY; EPILEPSY; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KCNT1 GENE; MOLECULAR PATHOLOGY; MONOGENIC DISORDER; NEXT GENERATION SEQUENCING; PHARMACOGENOMICS; PRIORITY JOURNAL; REVIEW; WHOLE GENOME SEQUENCING; AGONISTS; ANTAGONISTS AND INHIBITORS; CHILD; DRUG EFFECTS; EARLY DIAGNOSIS; GENE EXPRESSION; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; NERVE CELL; NERVE CELL PLASTICITY; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PERSONALIZED MEDICINE; PROCEDURES; UTILIZATION;

AGE OF ONSET; ANTICONVULSANTS; CHILD; EARLY DIAGNOSIS; EPILEPSY; GENE EXPRESSION; GENETIC COUNSELING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ION CHANNELS; MUTATION; NEURONAL PLASTICITY; NEURONS; NEUROTRANSMITTER AGENTS; PRECISION MEDICINE; RECEPTORS, NEUROTRANSMITTER;

EID: 85012911119     PISSN: 11771062     EISSN: 11792000     Source Type: Journal    
DOI: 10.1007/s40291-017-0257-0     Document Type: Review

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