Severe infantile epileptic encephalopathy due to mutations in PLCB1: Expansion of the genotypic and phenotypic disease spectrum

Developmental Medicine and Child Neurology

Volumn 56, Issue 11, 2014, Pages 1124-1128

  Ngoh, Adeline ^a,b   Mctague, Amy ^a,b   Wentzensen, Ingrid M ^c   Meyer, Esther ^a   Applegate, Carolyn ^c   Kossoff, Eric H ^c   Batista, Denise A ^c,d   Wang, Tao ^c   Kurian, Manju A ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; PHOSPHOLIPASE C BETA1; RUFINAMIDE; PHOSPHOLIPASE C BETA; PLCB1 PROTEIN, HUMAN;

ARTICLE; BRAIN DISEASE; BRAIN SIZE; CASE REPORT; CHILD; CHROMOSOME 20P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CONVERGENT STRABISMUS; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DELAY; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; INTRACTABLE EPILEPSY; KETOGENIC DIET; LONG INTERSPERSED REPEAT; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NYSTAGMUS; PHOSPHOLIPASE C BETA1 GENE; PRESCHOOL CHILD; SANGER SEQUENCING; SPLICING DEFECT; TONIC CLONIC SEIZURE; DEVELOPMENTAL DISORDER; GENETICS; GENOTYPE; GRAND MAL EPILEPSY; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; EPILEPSY, TONIC-CLONIC; FEMALE; GENOTYPE; HUMANS; INFANT; MUTATION; PHENOTYPE; PHOSPHOLIPASE C BETA; SEVERITY OF ILLNESS INDEX;

EID: 84914097284     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12450     Document Type: Article

References (25)

1. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organisation of seizures and epilepsies: report of the ILAE Commission on classification and terminology, 2005-2009. Epilepsia 2010; 51: 676-85.
2. Eltze CM, Chong WK, Cox T, et al. A population-based study of newly diagnosed epilepsy in infants. Epilepsia 2013; 54: 437-45.
3. Prasad AN, Hoffman GF. Early onset epilepsy and inherited metabolic disorder: Diagnosis and management. Can J Neurol Sci 2010; 37: 350-8.
4. Rahman S, Footitt ET, Varadkar S, Clayton PT. Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol 2013; 55: 23-6.
5. Pong AW, Pal DK, Chung WK. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol 2011; 44: 317-27.
6. Mastrangelo M, Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012; 46: 24-31.
7. Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011; 70: 974-85.
8. Mulley JC, Mefford HC. Epilepsy and the new cytogenetics. Epilepsia 2011; 52: 423-32.
9. Kurian MA, Meyer E, Vassallo G, et al. Phospholipase C beta 1 deficiency is associated with early onset epileptic encephalopathy. Brain 2010; 133: 2964-70.
10. Poduri A, Chopra S, Neilan EG, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012; 53: e146-50.
11. Suh PG, Park JI, Manzoliz L, et al. Multiple roles of phosphoinositide-specific phospholipase C isozymes. BMB Rep 2008; 41: 415-34.
12. Caricasole A, Sala C, Roncarati R, et al. Cloning and characterization of the human phosphoinositide-specific phospholipase C beta 1 (PLCB1). Biochim Biophys Acta 2000; 1517: 63-72.
13. Kim D, Jun KS, Lee SB, et al. Phospholipase C isozymes selectively couple to specific neurotransmitter receptors. Nature 1997; 389: 290-3.
14. Saitsu H, Mizuguchi T, Hamada K, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) causes early infantile epileptic encphalopathy. Nat Genet 2008; 40: 782-8.
15. Hamdan FF, Piton A, Gauthier J, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 2009; 65: 748-53.
16. Otsuka M, Oguni H, Liang JS, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome: result of Japanese cohort study. Epilepsia 2010; 51: 2449-52.
17. Deprez L, Weckhuysen S, Holmgren P, et al. Clinical Spectrum of early onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 2010; 75: 1159-64.
18. Friocourt G, Parnavelas JG. Mutations in ARX result in several defects involving GABAergic neurons. Front Cell Neurosci 2010; 4: 1-11.
19. Claes LR, Deprez L, Suls A, et al. The SCN1A variant database: a novel research and diagnostic tool. Hum Mutat 2009; 30: e904-20.
20. Harkin LA, Mcmahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007; 130: 843-52.
21. Kurian MA. The clinical utility of chromosomal microarray in childhood neurological disorders. Dev Med Child Neurol 2012; 54: 582-3.
22. Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013; 45: 825-30.
23. Cross JH, Kluger G, Lagae L. Advancing the management of childhood epilepsies. Eur J Paediatr Neurol 2013; 17: 334-47.
24. Brunklaus A, Dorris L, Ellis R, et al. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol 2013; 55: 154-61.
25. Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012; 135: 2329-36.