Neurol. praxi. 2012;13(5):275-278

Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies - part II

MUDr.Hana Krijtová, doc.MUDr.Petr Marusič, Ph.D.
Centrum pro epilepsie Motol, Neurologická klinika 2. LF UK a FN Motol, Praha

Molecular genetic diagnostic methods have recently very quickly advanced, their yield has simultaneously increased and the cost decreased.

Both physicians and common population have become more aware of possible genetic reasons for epilepsy and demands for

genetic testing of patients with epilepsy have increased too. But despite the progress in identification of genes contributing to different

epileptic syndromes the utility of genetic tests in clinical epileptology is often controversial. This second part of our article provides recent

genetic information on idiopathic epileptic syndromes and epileptic encephalopathies with identified genetic aetiology, possibilities of

genetic testing and current opinion on the clinical utility of genetic testing in respective syndromes.

Keywords: idiopathic epileptic syndromes, epileptic encephalopathies, genetic testing

Published: November 1, 2012  Show citation

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Krijtová H, Marusič P. Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies - part II. Neurol. praxi. 2012;13(5):275-278.
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References

  1. Bellini G, Miceli F, Soldovieri M, Miraglia del Giudice E, Pascotto A, Taglialatela M, Benign Familial Neonatal Seizures, Pagon RA, BT, Dolan CR, Stephens K, Editor. 2011 University of Washington, Seattle: Seattle (WA).
  2. Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004; 55(4): 550-557. Go to original source... Go to PubMed...
  3. Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 2011; 32(1): 1959-1975. Go to original source... Go to PubMed...
  4. Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 2010; 75(13): 1159-1165. Go to original source... Go to PubMed...
  5. Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002; 30(3): 335-341. Go to original source... Go to PubMed...
  6. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003; 72(6): 1401-1411. Go to original source... Go to PubMed...
  7. Mullen S, Suls A, Jonghe PD, Berkovic S, Scheffer I. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010; 75(5): 432-440. Go to original source... Go to PubMed...
  8. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol 2010; 6(8): 445-453. Go to original source... Go to PubMed...
  9. Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009; 29(34): 10764-10778. Go to original source... Go to PubMed...
  10. Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat 2010; 31(8): 889-900. Go to original source... Go to PubMed...
  11. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI, et al., Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994; 343(8896): 515-517. Go to original source... Go to PubMed...
  12. Scheffer IE, Zhang YH, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009; 31(5): 394-400. Go to original source... Go to PubMed...
  13. Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009; 66(3): 415-419. Go to original source... Go to PubMed...




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