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  1. Article ; Online: L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

    Krey, Ilona / von Spiczak, Sarah / Johannesen, Kathrine M / Hikel, Christiane / Kurlemann, Gerhard / Muhle, Hiltrud / Beysen, Diane / Dietel, Tobias / Møller, Rikke S / Lemke, Johannes R / Syrbe, Steffen

    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

    2022  Volume 19, Issue 1, Page(s) 334–341

    Abstract: Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF ... ...

    Abstract Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF variants with co-agonists of the NMDAR. In this respect, we describe a retrospectively collected series of ten individuals with GRIN2A- or GRIN2B-related disorders who were treated with L-serine, each within an independent n-of-1 trial. Our cohort comprises one individual with a LoF missense variant with clinical improvements confirming the above hypothesis and replicating a previous n-of-1 trial. A second individual with a GoF missense variant was erroneously treated with L-serine and experienced immediate temporary behavioral deterioration further supporting the supposed functional pathomechanism. Eight additional individuals with null variants (that had been interpreted as loss-of-function variants despite not being missense) again showed clinical improvements. Among all nine individuals with LoF missense or null variants, L-serine treatment was associated with improvements in behavior in eight (89%), in development in four (44%), and/or in EEG or seizure frequency in four (44%). None of these nine individuals experienced side effects or adverse findings in the context of L-serine treatment. In summary, we describe the first evidence that L-serine treatment may not only be associated with clinical improvements in GRIN-related disorders due to LoF missense but particularly also null variants.
    MeSH term(s) Electroencephalography ; Humans ; Receptors, N-Methyl-D-Aspartate/genetics ; Retrospective Studies ; Seizures/drug therapy ; Seizures/genetics ; Serine/genetics
    Chemical Substances Receptors, N-Methyl-D-Aspartate ; Serine (452VLY9402)
    Language English
    Publishing date 2022-01-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2316693-9
    ISSN 1878-7479 ; 1933-7213
    ISSN (online) 1878-7479
    ISSN 1933-7213
    DOI 10.1007/s13311-021-01173-9
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  2. Article ; Online: Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

    Micalizzi, Alessia / Poretti, Andrea / Romani, Marta / Ginevrino, Monia / Mazza, Tommaso / Aiello, Chiara / Zanni, Ginevra / Baumgartner, Bastian / Borgatti, Renato / Brockmann, Knut / Camacho, Ana / Cantalupo, Gaetano / Haeusler, Martin / Hikel, Christiane / Klein, Andrea / Mandrile, Giorgia / Mercuri, Eugenio / Rating, Dietz / Romaniello, Romina /
    Santorelli, Filippo Maria / Schimmel, Mareike / Spaccini, Luigina / Teber, Serap / von Moers, Arpad / Wente, Sarah / Ziegler, Andreas / Zonta, Andrea / Bertini, Enrico / Boltshauser, Eugen / Valente, Enza Maria

    European journal of human genetics : EJHG

    2016  Volume 24, Issue 9, Page(s) 1262–1267

    Abstract: Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise ... ...

    Abstract Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.
    MeSH term(s) Adolescent ; Cerebellar Ataxia/diagnosis ; Cerebellar Ataxia/genetics ; Cerebellum/abnormalities ; Cerebellum/diagnostic imaging ; Child ; Child, Preschool ; Cysts/diagnosis ; Cysts/genetics ; Eye Diseases/diagnosis ; Eye Diseases/genetics ; Female ; Founder Effect ; Frameshift Mutation ; Haplotypes ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Laminin/genetics ; Male ; Pedigree ; Syndrome
    Chemical Substances Laminin ; laminin A (151186-83-3)
    Language English
    Publishing date 2016-03-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2016.19
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    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.

    Tacke, Moritz / Borggraefe, Ingo / Gerstl, Lucia / Heinen, Florian / Vill, Katharina / Bonfert, Michaela / Bast, Thomas / Neubauer, Bernd Axel / Baumeister, Friedrich / Baethmann, Martina / Bentele, Karl / Blank, Christian / Blank, Harald M / Bode, Harald / Bosch, Friedrich / Brandl, Ulrich / Brockmann, Knut / Dahlem, Peter / Ernst, Jan-Peter /
    Feldmann, Evemarie / Fiedler, Andreas / Gerigk, Michael / Heß, Soeren / Hikel, Christiane / Hoffmann, Hans-Georg / Kieslich, Matthias / Klepper, Joerg / Kluger, Gerhard / Koch, Hartmut / Koch, Walter / Korinthenberg, Rudolf / Krois, Ilona / Kühne, Hermann / Kurlemann, Gerhard / Mandl, Michaela / Mause, Ulrike / Navratil, Peter / Opp, Joachim / Penzien, Johann / Prietsch, Viola / Quattländer, Axel / Rating, Dietz / Schara, Ulrike / Shamdeen, Mohammed G / Sprinz, Andreas / Wendker-Magrabi, Hildegard / Stephani, Ulrich / Muhle, Hiltrud / Straßburg, Hans-Michael / Töpke, Bärbel / Trollmann, Regina / Tuschen-Hofstätter, Elisabeth / Waltz, Stephan / Weber, Gabriele / Wien, Frank U / Wolff, Markus / Polster, Tilman / Freitag, Hedwig / Sönmez, Ötzcam / Reinhardt, Klaus / Traus, Marion / Hoovey, Zeecam

    Seizure

    2018  Volume 56, Page(s) 115–120

    Abstract: Purpose: BECTS (benign childhood epilepsy with centrotemporal spikes) is associated with characteristic EEG findings. This study examines the influence of anti-convulsive treatment on the EEG.: Methods: In a randomized controlled trial including 43 ... ...

    Abstract Purpose: BECTS (benign childhood epilepsy with centrotemporal spikes) is associated with characteristic EEG findings. This study examines the influence of anti-convulsive treatment on the EEG.
    Methods: In a randomized controlled trial including 43 children with BECTS, EEGs were performed prior to treatment with either Sulthiame or Levetiracetam as well as three times under treatment. Using the spike-wave-index, the degree of EEG pathology was quantified. The EEG before and after initiation of treatment was analyzed. Both treatment arms were compared and the EEG of the children that were to develop recurrent seizures was compared with those that were successfully treated.
    Results: Regardless of the treatment agent, the spike-wave-index was reduced significantly under treatment. There were no differences between the two treatment groups. In an additional analysis, the EEG characteristics of the children with recurrent seizures differed statistically significant from those that did not have any further seizures.
    Conclusion: Both Sulthiame and Levetiracetam influence the EEG of children with BECTS. Persistent EEG pathologies are associated with treatment failures.
    MeSH term(s) Anticonvulsants/therapeutic use ; Brain Waves/drug effects ; Child ; Double-Blind Method ; Electroencephalography ; Epilepsy, Rolandic/drug therapy ; Female ; Germany ; Humans ; Male ; Piracetam/analogs & derivatives ; Piracetam/therapeutic use ; Retrospective Studies ; Statistics, Nonparametric ; Thiazines/therapeutic use ; Treatment Outcome
    Chemical Substances Anticonvulsants ; Thiazines ; etiracetam (230447L0GL) ; sulthiame (I00Q766CZ2) ; Piracetam (ZH516LNZ10)
    Language English
    Publishing date 2018-02-03
    Publishing country England
    Document type Journal Article ; Multicenter Study ; Randomized Controlled Trial
    ZDB-ID 1137610-7
    ISSN 1532-2688 ; 1059-1311
    ISSN (online) 1532-2688
    ISSN 1059-1311
    DOI 10.1016/j.seizure.2018.01.015
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    Zs.A 3573: Show issues Location:
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  4. Article ; Online: Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

    Plecko, Barbara / Paul, Karl / Paschke, Eduard / Stoeckler-Ipsiroglu, Sylvia / Struys, Eduard / Jakobs, Cornelis / Hartmann, Hans / Luecke, Thomas / di Capua, Matteo / Korenke, Christoph / Hikel, Christiane / Reutershahn, Elke / Freilinger, Michael / Baumeister, Fritz / Bosch, Friedrich / Erwa, Wolfgang

    Human mutation

    2007  Volume 28, Issue 1, Page(s) 19–26

    Abstract: Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been ... ...

    Abstract Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified as having definite, probable, or possible PDE. Recently, PDE has been shown to be caused by a defect of alpha-amino adipic semialdehyde (AASA) dehydrogenase (antiquitin) in the cerebral lysine degradation pathway. The accumulating compound piperideine-6-carboxylic acid (P6C) was shown to inactivate pyridoxalphosphate (PLP) by a Knoevenagel condensation. Pipecolic acid (PA) and AASA are markedly elevated in urine, plasma, and cerebrospinal fluid (CSF) and thus can be used as biomarkers of the disease. We have investigated 18 patients with neonatal seizure onset, who have been classified as having definite (11), probable (four), or possible (three) PDE. All patients had elevated PA and AASA in plasma (and urine) while on treatment with individual dosages of pyridoxine. Within this cohort, molecular analysis identified 10 novel mutations (six missense mutations, one nonsense mutation, two splice site mutations) within highly conserved regions of the antiquitin gene. Seven mutations were located in exonic sequences and two in introns 7 and 17. Furthermore, a novel deletion of exon 7 was identified. Two of the 36 alleles investigated require further investigation. A known mutation (p.Glu399Gln) was found with marked prevalence, accounting for 12 out of 36 alleles (33%) within our cohort. Pyridoxine withdrawal is no longer needed to establish the diagnosis of "definite" PDE. Administration of pyridoxine in PDE may not only correct secondary PLP deficiency, but may also lead to a reduction of AASA (and P6C) as presumably toxic compounds.
    MeSH term(s) Aldehyde Dehydrogenase/genetics ; Amino Acid Sequence ; DNA Mutational Analysis ; Epilepsy/drug therapy ; Epilepsy/genetics ; Female ; Humans ; Infant, Newborn ; Male ; Models, Biological ; Mutation ; Pyridoxal Phosphate/deficiency ; Pyridoxine/therapeutic use ; Sequence Homology, Amino Acid ; Vitamin B 6 Deficiency/genetics
    Chemical Substances Pyridoxal Phosphate (5V5IOJ8338) ; ALDH7A1 protein, human (EC 1.2.1.3) ; Aldehyde Dehydrogenase (EC 1.2.1.3) ; Pyridoxine (KV2JZ1BI6Z)
    Language English
    Publishing date 2007-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.20433
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    Zs.A 3586: Show issues Location:
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  5. Article: Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.

    Weber, Yvonne G / Berger, Andrea / Bebek, Nerses / Maier, Sabine / Karafyllakes, Skevos / Meyer, Nancy / Fukuyama, Yukio / Halbach, Anne / Hikel, Christiane / Kurlemann, Gerhard / Neubauer, Bernd / Osawa, Makiko / Püst, Burkhard / Rating, Dietz / Saito, Kayoko / Stephani, Ulrich / Tauer, Ulrike / Lehmann-Horn, Frank / Jurkat-Rott, Karin /
    Lerche, Holger

    Epilepsia

    2004  Volume 45, Issue 6, Page(s) 601–609

    Abstract: Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare ... ...

    Abstract Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families.
    Methods: We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed.
    Results: The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136.
    Conclusions: Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.
    MeSH term(s) Adolescent ; Adult ; Aged ; Brain/physiopathology ; Brain Mapping ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 16/genetics ; Electroencephalography ; Epilepsy, Benign Neonatal/genetics ; Epilepsy, Benign Neonatal/physiopathology ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Haplotypes/genetics ; Humans ; Male ; Middle Aged ; Phenotype
    Chemical Substances Genetic Markers
    Language English
    Publishing date 2004-06
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/j.0013-9580.2004.48203.x
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    Zs.MO 475: Show issues

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