KEGG   DISEASE: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Entry
H02859                      Disease                                
Name
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Description
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is caused by homozygous or compound heterozygous mutations in the CACNA1B gene and is characterized by epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02859  Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H02859  Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02859  Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Pathway
hsa04020  Calcium signaling pathway
hsa04727  GABAergic synapse
Network
nt06528 Calcium signaling
nt06544 Neuroactive ligand signaling
Gene
CACNA1B [HSA:774] [KO:K04849]
Other DBs
ICD-11: LD90.Y
OMIM: 618497
Reference
PMID:30982612
  Authors
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA
  Title
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
  Journal
Am J Hum Genet 104:948-956 (2019)
DOI:10.1016/j.ajhg.2019.03.005
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