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Items: 33

1.

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.

PMID:
29942082
2.

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Glushkova M, Bojinova V, Koleva M, Dimova P, Bojidarova M, Litvinenko I, Todorov T, Iluca E, Calusaru C, Neagu E, Craiu D, Mitev V, Todorova A.

J Genet. 2018 Jun;97(2):419-427.

3.

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group, Myers CT, Mefford HC, Palotie A, Helbig I, Meier JC, De Jonghe P, Weckhuysen S, Schwarz G.

EMBO Mol Med. 2017 Dec;9(12):1764. doi: 10.15252/emmm.201708525. No abstract available.

4.

DMD and West syndrome.

Cardas R, Iliescu C, Butoianu N, Seferian A, Gataullina S, Gargaun E, Nectoux J, Bienvenu T, Craiu D, Gidaro T, Servais L.

Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19.

PMID:
28802771
5.

Practical clues for diagnosing WWOX encephalopathy.

Tarta-Arsene O, Barca D, Craiu D, Iliescu C.

Epileptic Disord. 2017 Sep 1;19(3):357-361. doi: 10.1684/epd.2017.0924.

PMID:
28721938
6.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Weeke LC, Brilstra E, Braun KP, Zonneveld-Huijssoon E, Salomons GS, Koeleman BP, van Gassen KL, van Straaten HL, Craiu D, de Vries LS.

Eur J Paediatr Neurol. 2017 Mar;21(2):396-403. doi: 10.1016/j.ejpn.2016.11.002. Epub 2016 Nov 19.

PMID:
27913086
7.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.

Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.

PMID:
27521439
8.

Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association.

Beniczky S, Neufeld M, Diehl B, Dobesberger J, Trinka E, Mameniskiene R, Rheims S, Gil-Nagel A, Craiu D, Pressler R, Krysl D, Lebedinsky A, Tassi L, Rubboli G, Ryvlin P.

Epilepsia. 2016 Sep;57(9):1363-8. doi: 10.1111/epi.13472. Epub 2016 Jul 21.

9.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.

Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P.

Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.

10.

Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery.

Kobulashvili T, Höfler J, Dobesberger J, Ernst F, Ryvlin P, Cross JH, Braun K, Dimova P, Francione S, Hecimovic H, Helmstaedter C, Kimiskidis VK, Lossius MI, Malmgren K, Marusic P, Steinhoff BJ, Boon P, Craiu D, Delanty N, Fabo D, Gil-Nagel A, Guekht A, Hirsch E, Kalviainen R, Mameniskiené R, Özkara Ç, Seeck M, Rubboli G, Krsek P, Rheims S, Trinka E.

Seizure. 2016 May;38:38-45. doi: 10.1016/j.seizure.2016.03.009. Epub 2016 Apr 1.

11.

Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe.

Mouthaan BE, Rados M, Barsi P, Boon P, Carmichael DW, Carrette E, Craiu D, Cross JH, Diehl B, Dimova P, Fabo D, Francione S, Gaskin V, Gil-Nagel A, Grigoreva E, Guekht A, Hirsch E, Hecimovic H, Helmstaedter C, Jung J, Kalviainen R, Kelemen A, Kimiskidis V, Kobulashvili T, Krsek P, Kuchukhidze G, Larsson PG, Leitinger M, Lossius MI, Luzin R, Malmgren K, Mameniskiene R, Marusic P, Metin B, Özkara C, Pecina H, Quesada CM, Rugg-Gunn F, Rydenhag B, Ryvlin P, Scholly J, Seeck M, Staack AM, Steinhoff BJ, Stepanov V, Tarta-Arsene O, Trinka E, Uzan M, Vogt VL, Vos SB, Vulliémoz S, Huiskamp G, Leijten FS, Van Eijsden P, Braun KP; E-PILEPSY consortium.

Epilepsia. 2016 May;57(5):770-6. doi: 10.1111/epi.13347. Epub 2016 Mar 25.

12.

Presurgical Evaluation and Epilepsy Surgery in MRI Negative Resistant Epilepsy of Childhood with Good Outcome.

Craiu D, Barborica A, Motoescu C, Donos C, Ciurea J, Mindruta I.

Turk Neurosurg. 2015;25(6):905-13. doi: 10.5137/1019-5149.JTN.12093-14.0.

13.

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group, Myers CT, Mefford HC, Palotie A, Helbig I, Meier JC, De Jonghe P, Weckhuysen S, Schwarz G.

EMBO Mol Med. 2015 Dec;7(12):1580-94. doi: 10.15252/emmm.201505323. Erratum in: EMBO Mol Med. 2017 Dec;9(12 ):1764.

14.

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.

Häusler M, Aksoy A, Alber M, Altunbasak S, Angay A, Arsene OT, Craiu D, Hartmann H, Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic-Jakubi B, Korinthenberg R, Köse G, Lukban MB, Ozkan M, Patcheva I, Teichler J, Vintan M, Yaramis A, Yarar C, Yis U, Yuksel D, Anlar B.

Neuropediatrics. 2015 Dec;46(6):377-84. doi: 10.1055/s-0035-1564618. Epub 2015 Oct 19.

PMID:
26479761
15.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium.

Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17.

PMID:
26384929
16.

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.

Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P, Carrizosa J, Elia M, Craiu D, Jovic NJ, Nordli D, Hirtz D, Wong V, Glauser T, Mizrahi EM, Cross JH.

Epilepsia. 2015 Aug;56(8):1185-97. doi: 10.1111/epi.13057. Epub 2015 Jun 30. Review.

17.

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B.

Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19.

18.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.

Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9.

19.

Intellectual disability and epilepsy in down syndrome.

Barca D, Tarta-Arsene O, Dica A, Iliescu C, Budisteanu M, Motoescu C, Butoianu N, Craiu D.

Maedica (Buchar). 2014 Dec;9(4):344-50.

20.

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE; EuroEPINOMICS RES Consortium.

Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305. Epub 2015 Feb 11.

21.

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J.

Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30.

22.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C.

Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi: 10.1016/j.ejpn.2014.07.008. Epub 2014 Aug 7.

PMID:
25439737
23.

Role of optic microscopy for early diagnosis of Menkes disease.

Craiu D, Kaler S, Craiu M.

Rom J Morphol Embryol. 2014;55(3):953-6.

24.

Co-occurring malformations of cortical development and SCN1A gene mutations.

Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, Parmeggiani A, Pieper T, Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R.

Epilepsia. 2014 Jul;55(7):1009-19. doi: 10.1111/epi.12658. Epub 2014 Jun 5.

25.

Diagnostic approach of angelman syndrome.

Duca DG, Craiu D, Boer M, Chirieac SM, Arghir A, Tutulan-Cunita A, Barca D, Iliescu C, Lungeanu A, Magureanu S, Budisteanu M.

Maedica (Buchar). 2013 Sep;8(4):321-7.

26.

Diagnostic approach of epilepsy in childhood and adolescence.

Iliescu C, Craiu D.

Maedica (Buchar). 2013 Jun;8(2):195-9.

27.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.

28.

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
29.

Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach.

Bosemani T, Anghelescu C, Boltshauser E, Hoon AH Jr, Pearl PL, Craiu D, Johnston MV, Huisman TA, Poretti A.

Eur J Paediatr Neurol. 2014 May;18(3):249-56. doi: 10.1016/j.ejpn.2013.09.010. Epub 2013 Oct 9. Review.

PMID:
24149100
30.

What is special about the adolescent (JME) brain?

Craiu D.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S45-51. doi: 10.1016/j.yebeh.2012.12.008. Review.

PMID:
23756479
31.

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.

Todorov T, Todorova A, Motoescu C, Dimova P, Iancu D, Craiu D, Stoian D, Barbarii L, Bojinova V, Mitev V.

Mutat Res. 2012 Jun 1;734(1-2):69-72. doi: 10.1016/j.mrfmmm.2012.04.001. Epub 2012 Apr 16.

PMID:
22525432
32.

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.

Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.

Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13.

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