Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum

European Journal of Paediatric Neurology

Volumn 20, Issue 4, 2016, Pages 657-660

  Hundallah, Khaled ^a   Alenizi, Asma'A ^a   Alhashem, Amal ^a   Tabarki, Brahim ^a  

^a The General Directorate of Armed Forces Health Services   (Saudi Arabia)

Author keywords

Epileptic encephalopathy; KCNA2

Indexed keywords

ACETAZOLAMIDE; AMINO ACID; AMMONIA; CARBOXYLIC ACID; CLONAZEPAM; LACTIC ACID; LEVETIRACETAM; NEUROTRANSMITTER; PHENOBARBITAL; POTASSIUM CHANNEL KV1.2; TOPIRAMATE; KCNA2 PROTEIN, HUMAN;

APGAR SCORE; ARTICLE; BIRTH WEIGHT; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID; CESAREAN SECTION; DRUG RESISTANT EPILEPSY; ELECTRORETINOGRAM; EPILEPSY; FETUS DISTRESS; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; GENOTYPE; HEAD CIRCUMFERENCE; HUMAN; INFANT; INTRACTABLE EPILEPSY; ISOELECTRIC FOCUSING; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TEMPORAL LOBE; TENDON REFLEX; TONIC SEIZURE; BRAIN; CEREBRAL PALSY; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; ELECTROENCEPHALOGRAPHY; GENETIC PREDISPOSITION; GENETICS; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY;

BRAIN; BRAIN DISEASES; CEREBRAL PALSY; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KV1.2 POTASSIUM CHANNEL; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE;

EID: 84964614337     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2016.03.011     Document Type: Article

References (8)

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