A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyA homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeNeuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plusParoxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsyDefinition and diagnostic criteria of sleep-related hypermotor epilepsyCHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.Channelopathies as a genetic cause of epilepsySodium-channel defects in benign familial neonatal-infantile seizuresSubcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesSevere myoclonic epilepsy of infancy: extended spectrum of GEFS+?How mutations in the nAChRs can cause ADNFLE epilepsyGeneralized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypesSCN1A mutations and epilepsyBenign familial neonatal-infantile seizures: characterization of a new sodium channelopathyGenetic variation of CACNA1H in idiopathic generalized epilepsyGABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsiesDoublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling proteinArray-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisNew-onset temporal lobe epilepsy in children: lesion on MRI predicts poor seizure outcomeRevised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009Characterization of mutations in the gene doublecortin in patients with double cortex syndromeTubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneA genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsyEpilepsy and mental retardation limited to females: an under-recognized disorderGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.The genetic basis of music abilityCathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisReduced cortical inhibition in a mouse model of familial childhood absence epilepsy.Idiopathic recurrent stupor: a warning.Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.Networks underlying paroxysmal fast activity and slow spike and wave in Lennox-Gastaut syndrome.Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
P50
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P50
description
Australian neurologist
@en
australischer Neurowissenschaftler
@de
ausztrál neurológus, 1953-
@hu
aŭstralia neŭrologo
@eo
neurocientíficu australianu
@ast
neurolojiste australian
@lfn
neurowetenschapper uit Australië
@nl
neurólogo australiano
@es
néareolaí Astrálach
@ga
عالم أعصاب أسترالي
@ar
name
Samuel Berkovic
@ast
Samuel Berkovic
@ca
Samuel Berkovic
@en
Samuel Berkovic
@es
Samuel Berkovic
@fr
Samuel Berkovic
@ga
Samuel Berkovic
@hu
Samuel Berkovic
@nl
Samuel Berkovic
@sl
Samuel Berkovic
@sq
type
label
Samuel Berkovic
@ast
Samuel Berkovic
@ca
Samuel Berkovic
@en
Samuel Berkovic
@es
Samuel Berkovic
@fr
Samuel Berkovic
@ga
Samuel Berkovic
@hu
Samuel Berkovic
@nl
Samuel Berkovic
@sl
Samuel Berkovic
@sq
altLabel
Berkovic
@hu
Sam Berkovic
@ast
Sam Berkovic
@en
Samuel F. Berkovic
@en
Samuel Frank Berkovic
@en
Samuel Frank Berkovic
@fr
Samuel Frank Berkovic
@hu
prefLabel
Samuel Berkovic
@ast
Samuel Berkovic
@ca
Samuel Berkovic
@en
Samuel Berkovic
@es
Samuel Berkovic
@fr
Samuel Berkovic
@ga
Samuel Berkovic
@hu
Samuel Berkovic
@nl
Samuel Berkovic
@sl
Samuel Berkovic
@sq
P166
P214
P1153
7101763886
P1412
P1477
Samuel Frank Berkovic
@en
P166
P2070
samuel-berkovic-11075
P21
P214
P27
P31
P496
0000-0003-4580-841X
P551
P569
1953-10-13T00:00:00Z
P734
P7859
viaf-311802942