Matthew Fleming

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Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. We performed exome sequencing in three probands with MMPSI and identified de novo gain-of-function mutations affecting the C-terminal domain of the KCNT1 potassium channel. We sequenced(More)
Recently it has been proposed that the classical diffraction limit could be overcome by taking into account multiple scattering effects to describe the interaction of a probing wave and the object to be imaged [Phys. Rev. E73, 036619 (2006)]. Here this idea is illustrated by considering two point scatterers spaced much less than a wavelength apart. It is(More)
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential(More)
Colorectal carcinoma is one of the most common cancers and one of the leading causes of cancer-related death in the United States. Pathologic examination of biopsy, polypectomy and resection specimens is crucial to appropriate patient managemnt, prognosis assessment and family counseling. Molecular testing plays an increasingly important role in the era of(More)
Loss of the RNA-binding protein fragile X mental retardation protein (FMRP) represents the most common form of inherited intellectual disability. Studies with heterologous expression systems indicate that FMRP interacts directly with Slack Na(+)-activated K(+) channels (K(Na)), producing an enhancement of channel activity. We have now used Aplysia bag cell(More)
Ion channels control the electrical properties of neurons and other excitable cell types by selectively allowing ion to flow through the plasma membrane. To regulate neuronal excitability, the biophysical properties of ion channels are modified by signaling proteins and molecules, which often bind to the channels themselves to form a heteromeric channel(More)
Visual activity refines developing retinotectal maps and shapes individual retinal arbors via an NMDA receptor-dependent mechanism. As retinal axons grow into tectum, they slow markedly and emit many transient side branches behind the tip, assuming a "bottlebrush" morphology. Some branches are stabilized and branch further, giving rise to a compact arbor.(More)
Many cities have been built along large rivers. The rivers can provide a source of drinking water, act as receiving water for treated effluent, provide navigation for shipping, and other beneficial uses. However, the city must also be protected from flooding due to the close proximity to the river. Hydrologic analysis plays a crucial role in the development(More)
Sequence analysis of the haemagglutinin protein (H) gene of the morbillivirus (PDV-2) isolated from a Siberian seal (Phoca sibirica) during the 1987/1988 epizootic in Lake Baikal revealed that it was most closely related to two recent isolates of canine distemper virus (CDV) from Germany and different from CDV vaccines currently in use in that region. The(More)
BACKGROUND Metastatic cancer of unknown primary (MCUP) accounts for 5-10% of presenting oncology patients. Premorbid identification of the primary source occurs in only 20-25% of cases. A small fraction of these tumors present in the skin and are thus likely to be encountered by dermatologists and dermatologic surgeons. OBJECTIVE To present a practical(More)