ライフサイエンスコーパス: infantile-onset

1 se manifested as a spectrum of predominantly infantile-onset (14/18, 78%) and variably progressive ne

2 le largest group (34.4%), most of which were infantile onset (19%).

3 with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cell

4 -onset disease is typically more severe than infantile-onset and adult-onset disease, long-term morbi

5 iaphragm muscle is severely affected in both infantile-onset and late-onset individuals, with death o

6 antly, many genetic disorders with fetal and infantile onset are treatable as well.

7 n early-onset amyotrophic lateral sclerosis, infantile-onset ascending hereditary spastic paraplegia

8 LS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis.

9 ion (IVS18+2t-->a) in a patient with classic infantile-onset autosomal recessive glycogen storage dis

10 The patient had an infantile-onset but slowly progressive encephalomyopathy

11 Infantile-onset cardiac disease, because of its rapid pr

12 vity is a potential targetable mechanism for infantile-onset cardiomyopathy, a common manifestation o

13 ation in striated muscle and an accompanying infantile-onset cardiomyopathy.

14 emonstrate that FHF2 variants are a cause of infantile-onset developmental and epileptic encephalopat

15 e drug-resistant seizures and, in cases with infantile onset, developmental regression can follow.

16 rgeted 266 CAG repeats (a number that causes infantile-onset disease) into the mouse Sca7 locus to ge

17 sociated with distinct recessive or x-linked infantile onset disorders, resulting from defects in mit

18 nt MPZ mutations, including R98C, present as infantile onset dysmyelinating neuropathies.

19 ion in FOXRED1 in a child who presented with infantile-onset encephalomyopathy.

20 Patients presented with early infantile onset encephalopathy characterized by progress

21 yelination with spastic quadriplegia, and an infantile onset encephalopathy, suggesting multiple cell

22 nd in a single patient with a severe form of infantile onset encephalopathy.

23 f-function allele in UBA5 underlies a severe infantile-onset encephalopathy.

24 Most neonatal and infantile-onset epilepsies have presumed genetic aetiolo

25 phenotype with mild cognitive impairment and infantile onset epilepsy (focal seizures, fever sensitiv

26 eptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional v

27 ied a small family with autosomal recessive, infantile onset epilepsy and intellectual disability.

28 cted individuals presented DEE with neonatal/infantile-onset epilepsy (n = 6/6), global developmental

29 e we describe two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morp

30 se Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of

31 his gene has been previously associated with infantile-onset epilepsy syndromes in two other cohorts.

32 l loss of function, and with the neonatal or infantile onset epileptic encephalopathies due to KCNQ2

33 Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with

34 ere myoclonic epilepsy in infancy (SMEI), an infantile-onset epileptic encephalopathy characterized b

35 Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF).

36 ring, large-angle (approximately 25 degrees) infantile-onset esotropia (large-eso).

37 The predominant form of strabismus was infantile-onset: esotropia in 54%, exotropia in 26%, and

38 ing developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a reco

39 R480W is associated with a severe infantile onset form of SCA5, while E532_M544del is asso

40 Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration c

41 in-containing protein, is affected in a late infantile-onset form of NCL.

42 In the infantile-onset form, angle surgery does not seem to yie

43 e weakness, respiratory distress, and in the infantile-onset form, cardiomyopathy.

44 or mouse models may correspond to the severe infantile onset forms of NPC disease, Npc1(nmf164) mice

45 C3-were associated with both adult-onset and infantile-onset forms of disease, which also differed in

46 Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or

47 complex encoding gene, in an individual with infantile-onset generalized dystonia.

48 eyes of 5 patients (4 Type I, 1 Type II) had infantile-onset glaucoma, and all eyes required glaucoma

49 splantation (HSCT) is the only treatment for infantile-onset GLD; however, clinical outcomes of HSCT

50 The infantile onset group had higher Charcot-Marie-Tooth dis

51 Our examination of severe infantile onset human SMA tissues obtained at expedited

52 lopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay throug

53 ith a severe phenotype dominated by profound infantile-onset hypotonia and developmental delay.

54 nt stem cells (iPSCs) were generated from an infantile-onset IBD patient lacking a functional IL10RB

55 presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and p

56 isease is hypothesised to be between that of infantile-onset (ie, <6 years old) and adult-onset disea

57 odies against interleukin-10 in a child with infantile-onset inflammatory bowel disease (IBD), a phen

58 Infantile-onset inflammatory bowel disease (IO IBD) is a

59 Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozyg

60 Affected children had large heads, infantile-onset intractable multifocal seizures and seve

61 ndrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have o

62 diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with

63 occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent

64 neuron (SMN) protein triggers the oft-fatal infantile-onset motor neuron disorder, spinal muscular a

65 We describe a disease encompassing infantile-onset movement disorder (including severe park

66 biallelic mutation in the PTRH2 gene causes infantile-onset multisystem disease with progressive mus

67 In parallel, infantile-onset mutant GALCs showed reduced trafficking

68 Two additional infantile onset mutations, R437W and R437Q, but not the

69 ng in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnorm

70 ates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14.

71 Mutation of the deglutamylase CCP1 causes infantile-onset neurodegeneration.

72 t siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a

73 patients presented with a complex, neonatal/infantile onset neurological and neurodevelopmental synd

74 Clinically, infantile onset neurological regression with partial rec

75 The adult male subject had infantile onset nystagmus while the three other patients

76 Recent studies on the various forms of infantile-onset nystagmus have advanced our understandin

77 Infantile-onset nystagmus is commonly associated with ge

78 In addition, patients with infantile onset of disease appeared to have a distinct p

79 Strikingly, patients with infantile onset of disease showed less sensory involveme

80 Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immun

81 d from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high

82 Many GLD patients develop infantile-onset of progressive neurologic deterioration

83 ype than deletion of either gene alone, with infantile onset pan-enteric polyposis and a high mortali

84 ients in the cohort presented with classical infantile-onset parkinsonism dystonia, with one survivin

85 Half of the infantile onset patients then required ambulation aids o

86 The majority of the patients had infantile-onset PCG (n = 67, 46%).

87 Overall, infantile-onset PCG showed better success rates than oth

88 Infantile-onset PCG was the most common form (61%) of pr

89 utcomes were more favorable in children with infantile-onset PCG.

90 SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epi

91 Infantile-onset Pompe Disease (IOPD), caused by mutation

92 ple of Southern Han Chinese ancestry, causes infantile-onset Pompe disease (IOPD), presenting neonata

93 Infantile-onset Pompe disease is an autosomal recessive

94 reprogrammed fibroblasts from patients with infantile-onset Pompe disease to generate induced plurip

95 mpe disease or, in combination with ERT, for infantile-onset Pompe disease.

96 The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in t

97 ross-reactive immunologic material)-negative infantile-onset Pompe's disease.

98 larly undefined form of NCL characterized by infantile-onset progressive myoclonic epilepsy (PME), vi

99 ibed, with a classical presentation of early infantile-onset progressive parkinsonism dystonia.

100 cted in dopamine transporter mutants causing infantile-onset rather than juvenile-onset disease.

101 dividuals with severe, sporadic disorders of infantile onset represent an important class of disease

102 Clinical features demonstrated a severe infantile onset retinal dystrophy, similar to Leber cong

103 neurodevelopmental delay and an intractable infantile-onset seizure disorder.

104 We report two siblings with infantile onset seizures, severe developmental delay and

105 terized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, chore

106 uNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal

107 ved in the O-mannosylation pathway result in infantile-onset, severe developmental defects involving

108 ulminant neonatal worsening of patients with infantile onset SMA and identify a temporal window for m

109 ates meaningful change in clinical trials in infantile-onset SMA.

110 One strabismic monkey had infantile-onset, small-angle esotropia (small-eso approx

111 -onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with glob

112 -onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental dela

113 Infantile-onset spinal muscular atrophy (SMA) is the mos

114 ic or clinical characteristics predictive of infantile-onset spinal muscular atrophy type 1.

115 dentified through clinical examination) with infantile-onset spinal muscular atrophy.

116 and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy.

117 led, phase 3 clinical study of nusinersen in infantile-onset spinal muscular atrophy.

118 Infantile onset spinocerebellar ataxia (IOSCA) (MIM 2712

119 underlying autosomally recessively inherited infantile onset spinocerebellar ataxia (IOSCA), we ident

120 F-66 gene lies within the critical region of infantile-onset spinocerebellar ataxia (IOSCA).

121 syndrome with mtDNA depletion syndrome, and infantile-onset spinocerebellar ataxia.

122 Amblyopic patients with infantile onset strabismus or anisometropia can develop

123 lopments associated with unrepaired natural, infantile-onset strabismus in primates.

124 We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated

125 We report that infantile-onset TLE leads to changes in the expression o

126 gly, the miRNA profile in the acute stage of infantile-onset TLE overlaps in dysregulation of miR-132

127 All affected individuals exhibited infantile-onset, treatment-resistant epilepsy.

128 deficiency produces two phenotypes, a severe infantile-onset variant, Wolman disease (WD), and a late

129 (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neu

130 rodegeneration as well as corneal opacity of infantile-onset with epithelial autofluorescent lysosoma