Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J., Schuierer, Gerhard and Hehr, Ute (2016). LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev., 38 (4). S. 399 - 407. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

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Abstract

Background: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug resistant epilepsy within the first year. Aim: To analyze the epileptogenic phenotype and response to antiepileptic therapy in LIS1-associated classic lissencephaly. Method: Retrospective evaluation of 22 patients (8 months-24 years) with genetically and radiologically confirmed LIS1-associated classic lissencephaly in 16 study centers. Results: All patients in our cohort developed drug-resistant epilepsy. In 82% onset of seizures was noted within the first six months of life, most frequently with infantile spasms. Later in infancy the epileptogentic phenotype became more variable and included different forms of focal seizures as well generalized as tonic clonic seizures, with generalized tonic clonic seizures being the predominant type. Lamotrigine and valproate were rated most successful with good or partial response rates in 88-100% of the patients. Both were evaluated significantly better than levetiracetam (p < 0.05) and sulthiame (p < 0.01) in the neuropediatric assessment and better than levetiracetam, sulthiame (p < 0.05) and topiramate (p < 0.01) in the family survey. Phenobarbital and vigabatrin achieved good or partial response in 62-83% of the patients. Conclusion: Our findings suggest that patients with LIS1-associated lissencephaly might benefit most from lamotrigine, valproate, vigabatrin or phenobarbital. (c) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Herbst, Saskia M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Proepper, Christiane R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geis, TobiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borggraefe, IngoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahn, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Debus, OtfriedUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haeussler, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Gersdorff, GeroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kurlemann, GerhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ensslen, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beaud, NathalieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Budde, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gilbert, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heiming, RalfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morgner, RitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Philippi, HeikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ross, SophiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Strobl-Wildemann, GertrudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muelleder, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vosschulte, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morris-Rosendahl, Deborah J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuierer, GerhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hehr, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-280186
DOI: 10.1016/j.braindev.2015.10.001
Journal or Publication Title: Brain Dev.
Volume: 38
Number: 4
Page Range: S. 399 - 407
Date: 2016
Publisher: ELSEVIER SCIENCE BV
Place of Publication: AMSTERDAM
ISSN: 1872-7131
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
VAGUS NERVE-STIMULATION; LIS1 GENE; INTRACTABLE EPILEPSY; BAND HETEROTOPIA; MOLECULAR-BASIS; MUTATIONS; LAMOTRIGINE; STRATEGIES; DELETIONS; SEVERITYMultiple languages
Clinical Neurology; PediatricsMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/28018

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