Hedou G, Chasserot-Golaz S, Kemmel V, et al: Immunohistochemical studies of the localization of neurons containing the enzyme that synthesizes dopamine, GABA, or gamma-hydroxybutyrate in the rat substantia nigra and striatum. J Comp Neurol. 2000, 426: 549-560. 10.1002/1096-9861(20001030)426:4<549::AID-CNE4>3.0.CO;2-Y.
Article
CAS
PubMed
Google Scholar
Obata K, Hirono M, Kume N, Kawaguchi Y, Itohara S, Yanagawa Y: GABA and synaptic inhibition of mouse cerebellum lacking glutamate decarboxylase 67. Biochem Biophys Res Commun. 2008, 370: 429-433. 10.1016/j.bbrc.2008.03.110.
Article
CAS
PubMed
Google Scholar
Jaeken J, Casaer P, de Cock P, et al: Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neuro-transmitter metabolism. Neuropediatrics. 1984, 15: 165-169. 10.1055/s-2008-1052362.
Article
CAS
PubMed
Google Scholar
Jakobs C, Bojasch M, Mönch E, Rating D, Siemes H, Hanefeld F: Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta. 1981, 111: 169-178. 10.1016/0009-8981(81)90184-4.
Article
CAS
PubMed
Google Scholar
Pearl PL, Gibson KM, Acosta MT, et al: Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003, 60: 1413-1417. 10.1212/01.WNL.0000059549.70717.80.
Article
CAS
PubMed
Google Scholar
Pearl PL, Taylor JL, Trzcinski S, Sokohl A: The pediatric neurotransmitter disorders. J Child Neurol. 2007, 22: 606-616. 10.1177/0883073807302619.
Article
PubMed
Google Scholar
Bray NJ, Holmans PA, van den Bree MB, et al: Cis- and trans- loci influence expression of the schizophrenia susceptibility gene DTNBP1. Hum Mol Genet. 2008, 17: 1169-1174. 10.1093/hmg/ddn006.
Article
CAS
PubMed
Google Scholar
Brkanac Z, Chapman NH, Matsushita MM, et al: Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia. Am J Med Genet Part B: Neuropsychiatric Genetics. 2007, 144: 556-560.
Article
Google Scholar
De Rango F, Leone O, Dato S, et al: Cognitive functioning and survival in the elderly: The SSADH C538T polymorphism. Ann Hum Genet. 2008, 72: 630-635. 10.1111/j.1469-1809.2008.00450.x.
Article
CAS
PubMed
Google Scholar
Lorenz S, Heils A, Taylor KP, et al: Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. Neurosci Lett. 2006, 397: 234-239. 10.1016/j.neulet.2005.12.030.
Article
CAS
PubMed
Google Scholar
Murphy TC, Amarnath V, Gibson KM, Picklo MJ: Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydro-genase (ALDH5A1). J Neurochem. 2003, 86: 298-305.
Article
CAS
PubMed
Google Scholar
Snead OC, Gibson KM: Gamma-hydroxybutyric acid. N Engl J Med. 2005, 352: 2721-2732. 10.1056/NEJMra044047.
Article
CAS
PubMed
Google Scholar
Liu Z, Snead OC, Vergnes M, Depaulis A, Marescaux C: Intrathalamic injections of gamma-hydroxybutyric acid increase genetic absence seizures in rats. Neurosci Lett. 1991, 125: 19-21. 10.1016/0304-3940(91)90119-E.
Article
CAS
PubMed
Google Scholar
Cash CD: Gamma-hydroxybutyrate: An overview of the pros and cons for it being a neurotransmitter and/or a useful therapeutic agent. Neurosci Biobehav Rev. 1994, 18: 291-304. 10.1016/0149-7634(94)90031-0.
Article
CAS
PubMed
Google Scholar
Maitre M: The gamma-hydroxybutyrate signalling system in brain: Organization and functional implications. Prog Neurobiol. 1997, 51: 337-361. 10.1016/S0301-0082(96)00064-0.
Article
CAS
PubMed
Google Scholar
Snead OC, Bearden LJ: Naloxone overcomes the dopaminergic, EEG, and behavioral effects of gamma-hydroxybutyrate. Neurology. 1980, 30: 832-838. 10.1212/WNL.30.8.832.
Article
CAS
PubMed
Google Scholar
Dyer JE: Gamma-hydroxybutyrate: A health-food product producing coma and seizure-like activity. Am J Emerg Med. 1991, 9: 321-324. 10.1016/0735-6757(91)90050-T.
Article
CAS
PubMed
Google Scholar
Smith KM: Drugs used in acquaintance rape. J Am Pharm Assoc. 1999, 39: 519-525.
CAS
Google Scholar
Xyrem International Study Group: A double-blind, placebo-controlled study demonstrates sodium oxybate is effective for the treatment of excessive daytime sleepiness in narcolepsy. J Clin Sleep Med. 2005, 15: 391-397.
Google Scholar
Nava F, Premi S, Manzato E, Campagnola W, Lucchini A, Gessa GL: Gamma-hydroxybutyrate reduces both withdrawal syndrome and hypercortisolism in severe abstinent alcoholics: An open study vs. diazepam. Am J Drug Alcohol Abuse. 2007, 33: 379-392. 10.1080/00952990701315046.
Article
PubMed
Google Scholar
Scharf MB, Baumann M, Berkowitz DV: The effects of sodium oxybate on clinical symptoms and sleep patterns in patients with fibromyalgia. J Rheumatol. 2003, 30: 1070-1074.
CAS
PubMed
Google Scholar
Schwartz TL: Gamma hydroxy butyric acid and sodium oxybate used to treat posttraumatic stress disorder. CNS Spectrums. 2007, 12: 884-886.
PubMed
Google Scholar
Frucht SJ, Houghton WC, Bordelon Y, Greene PE, Louis ED: A single-blind, open-label trial of sodium oxybate for myo-clonus and essential tremor. Neurology. 2005, 65: 1967-1969. 10.1212/01.wnl.0000188670.38576.bd.
Article
CAS
PubMed
Google Scholar
Kaupmann K, Cryan JF, Wellendorph P, et al: Specific gamma-hydroxybutyrate-binding sites but loss of pharmacological effects of gamma-hydroxybutyrate in GABA(B)(1)-deficient mice. Eur J Neurosci. 2003, 18: 2722-2730. 10.1111/j.1460-9568.2003.03013.x.
Article
PubMed
Google Scholar
Lingenhoehl K, Brom R, Heid J, et al: Gamma-hydroxybutyrate is a weak agonist at recombinant GABA(B) receptors. Neuropharmacology. 1999, 38: 1667-1673. 10.1016/S0028-3908(99)00131-8.
Article
CAS
PubMed
Google Scholar
Snead OC, Liu CC: Gamma-hydroxybutyric acid binding sites in rat and human brain synaptosomal membranes. Biochem Pharmacol. 1984, 33: 2587-2590. 10.1016/0006-2952(84)90629-4.
Article
CAS
PubMed
Google Scholar
Snead OC: Ontogeny of gamma-hydroxybutyric acid II. Electroencephalographic effects. Brain Res. 1984, 317: 89-96.
Article
PubMed
Google Scholar
Castelli MP, Mocci I, Langlois X, et al: Quantitative autoradiographic distribution of gamma-hydroxybutyric acid binding sites in human and monkey brain. Brain Research, Mol Brain Res. 2000, 78: 91-99.
Article
CAS
PubMed
Google Scholar
Gould GG, Mehta AK, Frazer A, Ticku MK: Quantitative autoradiographic analysis of the new radioligand [(3)H](2E)-(5-hydroxy-5,7,8,9-tetrahydro-6H-benzo[a][7]annulen-6-ylidene) ethanoic acid ([(3)H]NCS-382) at gamma-hydroxybutyric acid (GHB) binding sites in rat brain. Brain Res. 2003, 979: 51-56. 10.1016/S0006-8993(03)02865-8.
Article
CAS
PubMed
Google Scholar
Murphy TC, Poppe C, Porter JE, Montine TJ, Picklo MJ: 4-Hydroxy-trans-2-nonenoic acid is a gamma-hydroxybutyrate receptor ligand in the cerebral cortex and hippocampus. J Neurochem. 2004, 89: 1462-1470. 10.1111/j.1471-4159.2004.02442.x.
Article
CAS
PubMed
Google Scholar
Andriamampandry C, Taleb O, Viry S, et al: Cloning and characterization of a rat brain receptor that binds the endogenous neuromodulator gamma-hydroxybutyrate (GHB). FASEB J. 2003, 17: 1691-1693.
CAS
PubMed
Google Scholar
Andriamampandry C, Taleb O, Kemmel V, Humbert JP, Aunis D, Maitre M: Cloning and functional characterization of a gamma-hydroxybutyrate receptor identified in the human brain. FASEB J. 2007, 21: 885-895. 10.1096/fj.06-6509com.
Article
CAS
PubMed
Google Scholar
Kemmel V, Miehe M, Roussel G, et al: Immunohistochemical localization of a GHB receptor-like protein isolated from rat brain. J Comp Neurol. 2006, 498: 508-524. 10.1002/cne.21072.
Article
CAS
PubMed
Google Scholar
Snead OC, Nichols AC: Gamma-hydroxybutyric acid binding sites: Evidence for coupling to a chloride anion channel. Neuropharmacology. 1987, 26: 1519-1523. 10.1016/0028-3908(87)90173-0.
Article
CAS
PubMed
Google Scholar
Eli M, Cattabeni F: Endogenous gamma-hydroxybutyrate in rat brain areas: Postmortem changes and effects of drugs interfering with gamma-aminobutyric acid metabolism. J Neurochem. 1983, 41: 524-530. 10.1111/j.1471-4159.1983.tb04770.x.
Article
CAS
PubMed
Google Scholar
Lyon RC, Johnston SM, Watson DG, McGarvie G, Ellis EM: Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: Role of the aldo-keto reductase AKR7A2. J Biol Chem. 2007, 282: 25986-25992. 10.1074/jbc.M702465200.
Article
CAS
PubMed
Google Scholar
Picklo MJ, Olson SJ, Hayes JD, Markesbery WR, Montine TJ: Elevation of AKR7A2 (succinic semialdehyde reductase) in neurodegenerative disease. Brain Res. 2001, 916: 229-238. 10.1016/S0006-8993(01)02897-9.
Article
CAS
PubMed
Google Scholar
Ando N, Gold BI, Bird ED, Roth RH: Regional brain levels of gamma-hydroxybutyrate in Huntington's disease. J Neurochem. 1979, 32: 617-622. 10.1111/j.1471-4159.1979.tb00392.x.
Article
CAS
PubMed
Google Scholar
Ando N, Simon JR, Roth RH: Inverse relationship between GABA and gamma-hydroxybutyrate levels in striatum of rat injected with kainic acid. J Neurochem. 1979, 32: 623-625. 10.1111/j.1471-4159.1979.tb00393.x.
Article
CAS
PubMed
Google Scholar
Akaboshi S, Hogema BM, Novelletto A, et al: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat. 2003, 22: 442-450. 10.1002/humu.10288.
Article
CAS
PubMed
Google Scholar
Vasiliou V, Nebert DW: Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family. Hum Genom. 2005, 2: 138-143.
CAS
Google Scholar
Bekri S, Fossoud C, Plaza G, et al: The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. Mol Genet Metab. 2004, 81: 347-351. 10.1016/j.ymgme.2004.01.012.
Article
CAS
PubMed
Google Scholar
Lemes A, Blasi P, Gonzales G, et al: Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. J Inherit Metab Dis. 2006, 29: 587-
Article
PubMed
Google Scholar
Blasi P, Palmerio F, Caldarola S, et al: Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. Clin Genet. 2006, 69: 294-296.
Article
CAS
PubMed
Google Scholar
Jung R, Rauch A, Salomons GS, et al: Clinical, cytogenetic and molecular characterization of a patient with combined succinic semi-aldehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab. 2006, 88: 256-260. 10.1016/j.ymgme.2006.02.003.
Article
CAS
PubMed
Google Scholar
Knerr I, Gibson KM, Jakobs C, Pearl PL: Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase (SSADH) deficiency. CNS Spectrums. 2008, 13: 598-605.
PubMed Central
PubMed
Google Scholar
Gropman A: Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Ann Neurol. 2003, 54 (Suppl 6): S66-S72.
Article
CAS
PubMed
Google Scholar
Leuzzi V, Di Sabato ML, Deodato F, et al: Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. Neurology. 2007, 68: 1320-1321. 10.1212/01.wnl.0000259537.54082.6d.
Article
CAS
PubMed
Google Scholar
Nylen K, Velazquez JL, Likhodii SS, et al: A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype. Exp Neurol. 2008, 210: 449-457. 10.1016/j.expneurol.2007.11.015.
Article
PubMed Central
CAS
PubMed
Google Scholar
Saronwala A, Tournay A, Gargus JJ: Taurine treatment of succinate semialdehyde dehydrogenase (SSADH) deficiency reverses MRI-documented globus lesion and clinical syndrome. 2008, American College of Medical Genetics, Annual Meeting, 12-16 March, Phoeniz, AZ
Google Scholar
Gibson KM, Gupta M, Pearl PL, et al: Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry. 2003, 54: 763-768. 10.1016/S0006-3223(03)00113-6.
Article
CAS
PubMed
Google Scholar
Pearl PL, Taylor J, Trzcinski S, et al: 11C - Flumazenil PET imaging in patients with SSADH deficiency. 2007, American Epilepsy Society, Philadelphia, PA, Program No. 2.140. 2007 Abstract Viewer, [http://www.aesnet.org/go/publications/aes-abstracts/abstract-search/?mode=display&st=flumazenil%20PET%20imaging&sy=2007&sb=All&startrow=l&id=7589]
Google Scholar
Reis J, Cohen LG, Pearl PL, Gibson KM, Dustin I, Theodore WH: Transcranial magnetic stimulation reveals altered cortical excitability in succinic semialdehyde dehydrogenase deficiency. 2007, American Epilepsy Society, Philadelphia, PA, Program No 3.029. 2007 Abstract Viewer., [http://www.aesnet.org/go/publications/aes-abstracts/abstract-search/?mode=display&st=transcranial%20magnetic%20stimulation&sy=2007&sb=All&startrow=l&id=7775]
Google Scholar
Hogema BM, Gupta M, Senephansiri H, et al: Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001, 29: 212-216. 10.1038/ng727.
Article
CAS
PubMed
Google Scholar
Cortez MA, Wu Y, Gibson KM, Snead OC: Absence seizures in succinic semialdehyde dehydrogenase deficient mice: A model of juvenile absence epilepsy. Pharmacol Biochem Behav. 2004, 79: 547-53. 10.1016/j.pbb.2004.09.008.
Article
CAS
PubMed
Google Scholar
Mehta AK, Gould GG, Gupta M, Carter LP, Gibson KM, Ticku MK: Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain. Mol Genet Metab. 2006, 88: 86-89. 10.1016/j.ymgme.2005.11.012.
Article
CAS
PubMed
Google Scholar
Gupta M, Jansen EE, Senephansiri H, et al: Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. Mol Ther. 2004, 9: 527-539. 10.1016/j.ymthe.2004.01.013.
Article
CAS
PubMed
Google Scholar
Gibson KM, Gupta M, Senephansiri H, et al: Oxidant stress and neurodegeneration in murine succinic semialdehyde dehydrogenase (SSADH) deficiency. Diseases of Neurotransmission: From Bench to Bed. Edited by: Hoffmann GF. 2006, SPS Verlagsgessellschaft mbH, Heilbronn, Germany, Symposia Proceedings, 199-212.
Google Scholar
Jansen EE, Verhoeven NM, Jakobs C, et al: Increased guani-dino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. Biochim Biophys Acta. 2006, 1762: 494-498. 10.1016/j.bbadis.2006.01.006.
Article
CAS
PubMed
Google Scholar
Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM: A novel, quantitative assay for homocarnosine in cere-brospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2006, 830: 196-200. 10.1016/j.jchromb.2005.10.053.
Article
CAS
PubMed
Google Scholar
Struys EA, Jansen EE, Gibson KM, Jakobs C: Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: Application to SSADH deficiency. J Inherit Metab Dis. 2005, 28: 913-920. 10.1007/s10545-005-0111-0.
Article
CAS
PubMed
Google Scholar
Struys EA, Verhoeven NM, Jansen EE, et al: Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: Further evidence for d-2-hydroxyglutarate transhydrogenase. Metabolism. 2006, 55: 353-358. 10.1016/j.metabol.2005.09.009.
Article
CAS
PubMed
Google Scholar
Buzzi A, Wu Y, Frantseva MV, et al: Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res. 2006, 1090: 15-22. 10.1016/j.brainres.2006.02.131.
Article
CAS
PubMed
Google Scholar
Wu Y, Buzzi A, Frantseva M, et al: Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol. 2006, 59: 42-52. 10.1002/ana.20686.
Article
CAS
PubMed
Google Scholar
Sauer SW, Kölker S, Hoffmann GF, et al: Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int. 2007, 50: 653-659. 10.1016/j.neuint.2006.12.009.
Article
CAS
PubMed
Google Scholar
Dutra-Filho CS, Wajner M, Wannmacher CM, et al: Inhibition of citrate oxidation in vitro by 2-hydroxybutyrate and 4-hydroxybutyrate in cerebral cortex of young rats. Biochem Soc Trans. 1995, 23: 229S-
Article
CAS
PubMed
Google Scholar
Dutra-Filho CS, Wajner M, Wannmacher CM, et al: 2-Hydroxybutyrate and 4-hydroxybutyrate inhibit CO2 formation from labeled substrates by rat cerebral cortex. Biochem Soc Trans. 1995, 23: 228S-
Article
CAS
PubMed
Google Scholar
Latini A, Scussiato K, Leipnitz G, Gibson KM, Wajner M: Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice. J Inherit Metab Dis. 2007, 30: 800-810. 10.1007/s10545-007-0599-6.
Article
CAS
PubMed
Google Scholar
Kaufman EE, Nelson T, Fales HM, Levin DM: Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria. J Biol Chem. 1988, 263: 16872-16879.
CAS
PubMed
Google Scholar
Struys EA: D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006, 29: 21-29. 10.1007/s10545-006-0317-9.
Article
CAS
PubMed
Google Scholar
Reed T, Perluigi M, Sultana R, et al: Redox proteomic identification of 4-hydroxy-2-nonenal-modified brain proteins in amnestic mild cognitive impairment: Insight into the role of lipid peroxidation in the progression and pathogenesis of Alzheimer's disease. Neurobiol Dis. 2008, 30: 107-120. 10.1016/j.nbd.2007.12.007.
Article
CAS
PubMed
Google Scholar
Honzatko A, Brichac J, Murphy TC, et al: Enantioselective metabolism of trans-4-hydroxy-2-nonenal by brain mitochondria. Free Radic Biol Med. 2005, 39: 913-924. 10.1016/j.freeradbiomed.2005.05.010.
Article
CAS
PubMed
Google Scholar
Meyer MJ, Mosely DM, Picklo MJ: Metabolism of 4-hydroxy-trans-2-nonenal by CNS mitochondria is dependent on age and NAD+ availability. Chem Res Toxicol. 2004, 17: 1272-1279. 10.1021/tx049843k.
Article
CAS
PubMed
Google Scholar
Chambliss KL, Hinson DD, Trettel F, et al: Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998, 63: 399-408. 10.1086/301964.
Article
PubMed Central
CAS
PubMed
Google Scholar
Blasi P, Boyl PP, Ledda M, et al: Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms. Mol Genet Metab. 2002, 76: 348-362. 10.1016/S1096-7192(02)00105-1.
Article
CAS
PubMed
Google Scholar
Chambliss KL, Zhang YA, Rossier E, Vollmer B, Gibson KM: Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues. J Neurochem. 1995, 65: 851-855.
Article
CAS
PubMed
Google Scholar
Gibson KM, Lee CF, Chambliss KL, et al: 4-Hydroxybutyric aciduria: Application of a fluorometric assay to the determination of SSA activity in extracts of cultured human lymphoblasts. Clin Chim Acta. 1991, 196: 219-221. 10.1016/0009-8981(91)90076-O.
Article
CAS
PubMed
Google Scholar
Blasi P, Palmerio F, Aiello A, Rocchi M, Malaspina P, Novelletto A: SSADH variation in primates: Intra and inter specific data on a gene with a potential role in human cognitive functions. J Mol Evol. 2006, 63: 54-68. 10.1007/s00239-005-0154-8.
Article
CAS
PubMed
Google Scholar
Leone O, Blasi P, Palmerio F, Kozlov AI, Malaspina P, Novelletto A: A human derived SSADH coding variant is replacing the ancestral allele shared with primates. Ann Hum Biol. 2006, 33: 593-603. 10.1080/03014460601035748.
Article
PubMed
Google Scholar
Busch KB, Fromm H: Plant succinic semialdehyde dehydrogenase. Cloning, purification, localization in mitochondria, and regulation by adenine nucleotides. Plant Physiol. 1999, 21: 589-597.
Article
Google Scholar
Dervent A, Gibson KM, Pearl PL, Salomons GS, Jakobs C, Yalcinkaya C: Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol. 2004, 115: 1417-1422. 10.1016/j.clinph.2004.01.002.
Article
CAS
PubMed
Google Scholar
Plomin R, Turic DM, Hill L, et al: A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability. Mol Psychiatry. 2004, 9: 582-586. 10.1038/sj.mp.4001441.
Article
CAS
PubMed
Google Scholar
Deffenbacher KE, Kenyon JB, Hoover DM, et al: Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: Linkage and association analyses. Hum Genet. 2004, 115: 128-138.
Article
CAS
PubMed
Google Scholar
Fisher SE, DeFries JC: Developmental dyslexia: Genetic dissection of a complex cognitive trait. Nat Rev Neurosci. 2002, 3: 767-780.
Article
CAS
PubMed
Google Scholar
Luciano M, Lind PA, Duffy DL, et al: A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatry. 2007, 62: 811-817. 10.1016/j.biopsych.2007.03.007.
Article
CAS
PubMed
Google Scholar
Cavalleri GL, Weale ME, Shianna KV, et al: Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol. 2007, 6: 970-980. 10.1016/S1474-4422(07)70247-8.
Article
CAS
PubMed
Google Scholar