TY - JOUR AB - Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available somatic treatments have limited efficacy. We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability. The encoded protein is responsible for phosphorylation-mediated inactivation of the E1α subunit of branched-chain ketoacid dehydrogenase (BCKDH). Patients with homozygous BCKDK mutations display reductions in BCKDK messenger RNA and protein, E1α phosphorylation, and plasma branched-chain amino acids. Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation. Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. AU - Gaia Novarino AU - El-Fishawy, Paul AU - Kayserili, Hülya AU - Meguid, Nagwa A AU - Scott, Eric M AU - Schroth, Jana AU - Silhavy, Jennifer L AU - Kara, Majdi AU - Khalil, Rehab O AU - Ben-Omran, Tawfeg I AU - Ercan-Sencicek, Adife G AU - Hashish, Adel F AU - Sanders, Stephan J AU - Gupta, Abha R AU - Hashem, Hebatalla S AU - Matern, Dietrich AU - Gabriel, Stacey B AU - Sweetman, Lawrence AU - Rahimi, Yasmeen AU - Harris, Robert A AU - State, Matthew W AU - Gleeson, Joseph G ID - 2314 IS - 6105 JF - Science TI - Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy VL - 338 ER - TY - JOUR AB - We show that bosons interacting via pair potentials with negative scattering length form bound states for a suitable number of particles. In other words, the absence of many-particle bound states of any kind implies the non-negativity of the scattering length of the interaction potential. AU - Seiringer, Robert ID - 2318 IS - 3 JF - Journal of Spectral Theory TI - Absence of bound states implies non-negativity of the scattering length VL - 2 ER - TY - CONF AB - We present a summary of our recent rigorous derivation of the celebrated Ginzburg-Landau (GL) theory, starting from the microscopic Bardeen-Cooper-Schrieffer (BCS) model. Close to the critical temperature, GL arises as an effective theory on the macroscopic scale. The relevant scaling limit is semiclassical in nature, and semiclassical analysis, with minimal regularity assumptions, plays an important part in our proof. AU - Frank, Rupert L AU - Hainzl, Christian AU - Robert Seiringer AU - Solovej, Jan P ID - 2317 TI - Microscopic derivation of the Ginzburg-Landau model ER - TY - CONF AB - We summarize our recent results on the ground state energy of multi-polaron systems. In particular, we discuss stability and existence of the thermodynamic limit, and we discuss the absence of binding in the case of large Coulomb repulsion and the corresponding binding-unbinding transition. We also consider the Pekar-Tomasevich approximation to the ground state energy and we study radial symmetry of the ground state density. AU - Frank, Rupert L AU - Lieb, Élliott H AU - Robert Seiringer AU - Thomas, Lawrence E ID - 2316 TI - Ground state properties of multi-polaron systems ER - TY - JOUR AB - The Manin conjecture is established for Châtelet surfaces over Q aris-ing as minimal proper smooth models of the surface Y 2 + Z 2 = f(X) in A 3 Q, where f ∈ Z[X] is a totally reducible polynomial of degree 3 without repeated roots. These surfaces do not satisfy weak approximation. AU - de la Bretèche, Régis AU - Timothy Browning AU - Peyre, Emmanuel ID - 237 IS - 1 JF - Annals of Mathematics TI - On Manin's conjecture for a family of Châtelet surfaces VL - 175 ER - TY - JOUR AB - For given positive integers a, b, q we investigate the density of solutions (x, y) ∈ Z2 to congruences ax + by2 ≡ 0 mod q. AU - Baier, Stephan AU - Timothy Browning ID - 238 IS - 2 JF - Functiones et Approximatio, Commentarii Mathematici TI - Inhomogeneous quadratic congruences VL - 47 ER - TY - CHAP AB - Bose–Einstein condensation (BEC) in cold atomic gases was first achieved experimentally in 1995 [1, 6]. After initial failed attempts with spin-polarized atomic hydrogen, the first successful demonstrations of this phenomenon used gases of rubidium and sodium atoms, respectively. Since then there has been a surge of activity in this field, with ingenious experiments putting forth more and more astonishing results about the behavior of matter at very cold temperatures. AU - Robert Seiringer ED - Rivasseau, Vincent ED - Robert Seiringer ED - Solovej, Jan P ED - Spencer, Thomas ID - 2399 T2 - Quantum Many Body Systems TI - Cold quantum gases and bose einstein condensation VL - 2051 ER - TY - JOUR AB - We study the BCS gap equation for a Fermi gas with unequal population of spin-up and spin-down states. For cosh (δ μ/T) ≤ 2, with T the temperature and δμ the chemical potential difference, the question of existence of non-trivial solutions can be reduced to spectral properties of a linear operator, similar to the unpolarized case studied previously in [Frank, R. L., Hainzl, C., Naboko, S., and Seiringer, R., J., Geom. Anal.17, 559-567 (2007)10.1007/BF02937429; Hainzl, C., Hamza, E., Seiringer, R., and Solovej, J. P., Commun., Math. Phys.281, 349-367 (2008)10.1007/s00220-008-0489-2; and Hainzl, C. and Seiringer, R., Phys. Rev. B77, 184517-110 435 (2008)]10.1103/PhysRevB.77.184517. For cosh (δ μ/T) > 2 the phase diagram is more complicated, however. We derive upper and lower bounds for the critical temperature, and study their behavior in the small coupling limit. AU - Freiji, Abraham AU - Hainzl, Christian AU - Robert Seiringer ID - 2394 IS - 1 JF - Journal of Mathematical Physics TI - The gap equation for spin-polarized fermions VL - 53 ER - TY - JOUR AB - We give the first rigorous derivation of the celebrated Ginzburg-Landau (GL) theory, starting from the microscopic Bardeen-Cooper-Schrieffer (BCS) model. Close to the critical temperature, GL arises as an effective theory on the macroscopic scale. The relevant scaling limit is semiclassical in nature, and semiclassical analysis, with minimal regularity assumptions, plays an important part in our proof. AU - Frank, Rupert L AU - Hainzl, Christian AU - Robert Seiringer AU - Solovej, Jan P ID - 2395 IS - 3 JF - Journal of the American Mathematical Society TI - Microscopic derivation of Ginzburg-Landau theory VL - 25 ER - TY - JOUR AB - A positive temperature analogue of the scattering length of a potential V can be defined via integrating the difference of the heat kernels of -Δ and, with Δ the Laplacian. An upper bound on this quantity is a crucial input in the derivation of a bound on the critical temperature of a dilute Bose gas (Seiringer and Ueltschi in Phys Rev B 80:014502, 2009). In (Seiringer and Ueltschi in Phys Rev B 80:014502, 2009), a bound was given in the case of finite range potentials and sufficiently low temperature. In this paper, we improve the bound and extend it to potentials of infinite range. AU - Landon, Benjamin AU - Robert Seiringer ID - 2396 IS - 3 JF - Letters in Mathematical Physics TI - The scattering length at positive temperature VL - 100 ER -