J. Mulley

Publications290
h-index71
Citations20,911
Highly Influential Citations921
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Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes
Autosomal dominant periodic fever syndromes are characterized by unexplained episodes of fever and severe localized inflammation. In seven affected families, we found six different missense mutations… Expand
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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
Febrile seizures affect approximately 3% of all children under six years of age and are by far the most common seizure disorder. A small proportion of children with febrile seizures later develop… Expand
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A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Epilepsy affects at least 2% of the population at some time in their lives1. The epilepsies are a heterogeneous group of disorders, many with an inherited component2. Although specific genes have… Expand
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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more severe outcome exist, but a definite… Expand
  • 336
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Incidence and origin of "null" alleles in the (AC)n microsatellite markers.
Twenty-three (AC)n repeat markers from chromosome 16 were typed in the parents of the 40 CEPH (Centre d'Etude du Polymorphisme Humain) families. Where parents were informative, the entire families… Expand
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Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
Epilepsies affect at least 2% of the population at some time in life, and many forms have genetic determinants. We have found a mutation in a gene encoding a GABA(A) receptor subunit in a large… Expand
  • 336
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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily genetic, major advances have been made in… Expand
  • 402
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Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Epilepsies affect at least 2% of the population at some time in life, and many forms have genetic determinants. We have found a mutation in a gene encoding a GABAA receptor subunit in a large family… Expand
  • 649
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders arising from mutations on the X chromosome… Expand
  • 325
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Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a… Expand
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