Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

Molecular Genetics and Metabolism

Volumn 114, Issue 3, 2015, Pages 467-473

  Nellist, Mark ^a   Schot, Rachel ^a   Hoogeveen Westerveld, Marianne ^a   Neuteboom, Rinze F ^a   van der Louw, Elles J T M ^a   Lequin, Maarten H ^a   Bindels de Heus, Karen ^a   Sibbles, Barbara J ^a   de Coo, René ^a   Brooks, Alice ^a   Mancini, Grazia M S ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

AKT3; Hypoglycemia; Ketogenic diet; MPPH MCAP

Indexed keywords

CLOBAZAM; CORTICOTROPIN; ETIRACETAM; THYROXINE; VIGABATRIN; AKT3 PROTEIN, HUMAN; PROTEIN KINASE B;

ALEXANDER DISEASE; ARTICLE; BODY HEIGHT; CALORIC INTAKE; CASE REPORT; CONTROLLED STUDY; EPILEPSY; FAILURE TO THRIVE; FETUS ECHOGRAPHY; FREE THYROXINE INDEX; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; GLUCOSE UTILIZATION; GLYCEMIC INDEX; HEAD CIRCUMFERENCE; HUMAN; HYPOGLYCEMIA; HYPOTHYROIDISM; INFANT; INFANTILE SPASM; KETOGENIC DIET; MICROGYRIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESTING ENERGY EXPENDITURE; SIGNAL TRANSDUCTION; TREATMENT OUTCOME; ABNORMALITIES; ABNORMALITIES, MULTIPLE; CAPILLARY; GENETICS; MEGALENCEPHALY; METABOLISM; MUTATION; POLYMICROGYRIA; RADIOGRAPHY; SKULL; SPASMS, INFANTILE; VASCULAR MALFORMATIONS;

ABNORMALITIES, MULTIPLE; ADRENOCORTICOTROPIC HORMONE; CAPILLARIES; EPILEPSY; GERM-LINE MUTATION; HUMANS; HYPOGLYCEMIA; INFANT; KETOGENIC DIET; MEGALENCEPHALY; MUSCLE HYPOTONIA; MUTATION; POLYMICROGYRIA; PROTO-ONCOGENE PROTEINS C-AKT; SKULL; SPASMS, INFANTILE; VASCULAR MALFORMATIONS;

EID: 84924146545     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.11.018     Document Type: Article

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